Chase the CureGetting treatments out of the labs and into this generation of NPC patients
Chase the Cure, Inc. · 501(c)(3) nonprofit

Please, Join our mission.

We are an organized group of parents living with, waging war against, and honoring loved ones with Niemann-Pick Type C. We are working to get treatments out of the labs and into this generation of NPC patients.

Currently Supporting Donate Here
The road aheadWe've a long road to a cure but we're on the right path!
NOW SEEKING SUPPORT✦NPC BRAIN BIOMARKER RESEARCH✦HELP MEASURE WHAT MATTERS TO FAMILIES✦
We are currently supporting

Better ways to measure what NPC is doing to the brain.

Chase the Cure is supporting a neurological biomarker and disease characterization project led by Jaymin Upadhyay, PhD, at Boston Children’s Hospital and Harvard Medical School. The goal is to connect noninvasive brain measures with the changes people and families experience in daily life.

This is a measurement study, not a drug trial. Better tools could help researchers follow disease progression and evaluate whether treatments change the course of NPC.

Read about the project →Ask how to help in 2026 →
Why we exist

Research matters.
People come first.

NPC is a rare genetic disease that affects families across the world. Chase the Cure began with parents and loved ones determined to help promising science reach patients in time.

We connect people to trustworthy information, celebrate progress, and invite a wider community to help fund the work still ahead.

$500,000+raised by Chase the Cure and our supporters for NPC research
Get to know us →
01 / COMMUNITY

Be Here.

You will learn from others who know. Find support among families living with NPC.

02 / OPTIMISM

Be Hopeful.

Your optimism inspires. Research and community action move us forward.

03 / ACTION

Be a hero.

Ask questions, support an NPC family, and bring others into the mission.

Chase smiling outdoors, wearing a helmet while seated in a bicycle seat
A note from Chase’s mom and our director

Just a m.o.m

“When my son Chase received his diagnosis on September 21, 2011, he was just two years old. I found our people and became a mother on a mission to save him. I failed. This website and this mission exists because this is how I can still parent my son Chase. This is how the contributions he never should have had to make are honored.”

— Shannon Reedy, Director

Director’s Note
A meaningful milestone

Progress is real.
The work continues.

In September 2024, the U.S. FDA approved the first two medicines indicated for neurological symptoms associated with NPC. They are important advances, but they are not cures. For families caring for someone with life-threatening NPC, an approved treatment can also complicate access to investigational therapies through compassionate use. Families may need to demonstrate why the available treatments are not adequate for their loved one. A sobering reminder that our work is far from done. Help us!

Understand the update →
September 2024Two FDA
approvals

Read the FDA's announcements for Miplyffa and Aqneursa.

The people behind the mission

Every story matters.

Meet the families →
Rachael with Debbie and family
Rachael's legacy · Debbie's mission

Thanks for Giving 2026, in memory of Rachael.

Debbie Kaflowitz historically led the annual fundraiser in memory of her daughter Rachael. We continue those efforts today, bringing the community together so loved ones living with NPC have more time.

Read their story →
Join the mission

Small acts create momentum.

Your support helps this family led effort keep moving. Share a story, organize a fundraiser, or make a gift.

Ways to help →
What is NPC

A rare disease.
A connected community.

An accessible starting point for learning about Niemann-Pick Type C.

What is NPC?

Niemann-Pick Type C (NPC) is a rare, inherited lysosomal storage disorder. Lysosomes are small compartments inside cells that break down and recycle materials. NPC disrupts the movement of cholesterol and other fats, called lipids, within this system.

These fats are normal parts of our bodies. When they become trapped, cells cannot work as they should. Changes in the NPC1 or NPC2 gene can affect the proteins that help move these materials. NPC1 is on chromosome 18; NPC2 is on chromosome 14.

MedlinePlus · NPC1 ↗ · MedlinePlus · NPC2 ↗ · NNPDF · Lysosomes and NPC terms ↗

What families may notice

NPC can affect the brain and nervous system, liver, spleen and sometimes lungs. Symptoms may begin in infancy, childhood, adolescence or adulthood. The pattern and pace vary from person to person.

  • Balance or coordination difficulties, changes in walking, or unusual muscle movements.
  • Difficulty speaking or swallowing.
  • Trouble moving the eyes up or down.
  • Changes in learning, memory, behavior or mental health; sometimes seizures.
  • An enlarged liver or spleen, sometimes before neurological symptoms appear.

NPC is progressive and life-limiting. A person’s diagnosis alone does not tell us exactly how their disease will unfold. NPC is not contagious and is not caused by eating foods high in cholesterol.

MedlinePlus · Disease overview ↗ · NNPDF · Understanding and diagnosing NPC ↗

How autosomal recessive inheritance works

Think of a gene as a set of instructions. We usually have two copies of each gene—one inherited from each parent. NPC develops when both copies of the same NPC gene have disease-causing changes. The changes do not have to be identical.

Autosomal means the gene is on a numbered chromosome rather than a sex chromosome. Recessive means both copies must be affected for this condition to develop. A person with one disease-causing copy and one working copy is called a carrier. Carriers typically do not have NPC, and may not know they carry a change.

When both parents are carriers of changes in the same NPC gene, each pregnancy has these chances:

25%

Has NPC

Inherits a disease-causing copy from each parent.

50%

Is a carrier

Inherits one disease-causing copy and one working copy.

25%

Neither has NPC nor is a carrier

Inherits a working copy from each parent.

These chances start again with every pregnancy. They do not mean that a family with four children will have exactly one affected child. Neither parent caused the disease through something they did. A genetic counselor can explain a family’s test results and inheritance risks.

MedlinePlus · Inheritance patterns ↗ · MedlinePlus · Pregnancy-by-pregnancy risk ↗

How is NPC diagnosed?

Clinicians consider symptoms, examination findings, blood-based biomarkers and genetic testing of NPC1 and NPC2. Older testing often used a skin biopsy and filipin staining to look for stored cholesterol. Today, blood biomarkers and genetic testing play a central role.

NNPDF · Diagnostic testing ↗

Treatment milestones

Medical and treatment source review: October 11, 2026. Approval dates below are historical U.S. milestones; a review date does not change a source’s publication date.

In September 2024, the U.S. Food and Drug Administration approved two treatments for neurological symptoms associated with NPC. Eligibility and use differ:

Miplyffa (arimoclomol)

Approved in combination with miglustat for adults and children age 2 and older.

FDA announcement ↗

Aqneursa (levacetylleucine)

Approved for adults and pediatric patients weighing at least 15 kg.

FDA announcement ↗

Look up a term in the NPC dictionary →

Investigational treatment update

In its May 28, 2026 announcement, Beren Therapeutics reported that the FDA review target date for adrabetadex in infantile-onset NPC had been extended to November 17, 2026. This is a target decision date, not an approval or a guarantee of approval.

Sponsor’s dated review update ↗ · Expanded-access registry record ↗

Finding your next step

Families can use the ClinicalTrials.gov search ↗ to explore current studies, or our NPC trials directory and world map, then review any options with their clinical team.

Explore registered research

NPC studies around the world.

Explore study names, registry status, and locations listed on ClinicalTrials.gov. This directory includes NPC treatment studies, observational research, newborn screening, and an expanded access record.

A study’s overall status and a location’s recruitment status can differ. Check the linked record and contact the study team about eligibility and whether that site is accepting participants.

Saved registry records checked October 11, 2026. All 13 listed records were refreshed from ClinicalTrials.gov; their reported statuses and last-update dates are unchanged. Live study links open the current registry record.

Listed study locationA number groups studies at the same location

Select a pin for study links. Drag to pan; use + / − to zoom. Pins use registry coordinates and may represent the listed city rather than a building.

Source: ClinicalTrials.gov NPC search ↗. Only records explicitly listing NPC among their conditions are included. Completed, withdrawn, terminated, suspended, no-longer-available, and approved-for-marketing records are excluded. Records marked “status unknown” have a separate filter and are not presented as confirmed ongoing studies. The saved directory is a registry snapshot; it does not cover research that is not registered here. World outlines: Natural Earth.

Family stories

Lives at the heart of the mission.

Each family has a distinct story. Get to know some amazing active and legacy families in our community.

1 of 12
Chase · August 21, 2009 – December 1, 2016

Chase's story

Chase Owen DiGiovanni came into the world on August 21, 2009, by emergency cesarean delivery, weighing 5 pounds 1 ounce. Early concerns, including elevated conjugated bilirubin, began a long search for answers. His family learned he had Niemann-Pick Type C when he was two.

Chase's life gave this organization its name and its urgency. His family gathered other parents, friends, and researchers around a promise to move treatments from laboratories to patients in this generation. Chase retired on December 1, 2016. His story remains a call to care for people living with NPC now.

Home from the NIH · October 2011
Chase with an older child on rocks beside the water in Burlington, Vermont

“This photo was taken in Burlington, Vermont, in October 2011. We had just flown home from the NIH, where Chase had completed his natural history study testing and had baselines established so he could begin miglustat. We knew we were going to pursue cyclodextrin, despite guidance a researcher had shared that we felt did not reflect the full context of his situation.

Even then we understood how rare this was, how each tiny piece of the puzzle was going to provide insight into the problem and potential solution. We held off giving Chase the only off-label treatment available at the time (a glycosphingolipidosis drug used in Gaucher) for two grueling weeks after diagnosis to make sure we had his baseline data and could begin to determine if the things we would pursue would help him.

We learned early to trust, but verify. We also learned that, to some, an NPC child could be viewed as a commodity, rather than simply a loved one.”

— Shannon Reedy, Chase’s mom and our director

Rachael Kaflowitz with her family
Rachael · June 21, 1985 – October 25, 2018

Rachael and Debbie

Rachael Kaflowitz was diagnosed with NPC in 2012 after changes in her personality and daily abilities led her family to seek answers. Her mother Debbie, a retired schoolteacher, has worked to help people understand the particular challenges of teen and adult onset NPC.

Following Rachael's death in 2018, Debbie carried that mission through the annual Thanks for Giving fundraiser. Her invitation to the community was to do its part to give others living with NPC more time. Chase the Cure carries that invitation forward in 2026.

Thanks for Giving 2026 →
Hayley Koujaian outdoors
Hayley · in memory · Alec · living with NPC

Hayley and Alec Koujaian

After years of looking for answers, the Koujaian family learned that Hayley had NPC at age 11. Her older brother Alec was diagnosed soon afterward. Their parents helped drive the NPC community's research and awareness efforts.

Hayley, born August 10, 1999, left us April 3, 2020. Alec is living with NPC. Together, their sibling story speaks to loss, persistence, and the importance of supporting people who are here today.

Read the Koujaian family's story ↗
Mason · in memory

Mason Martinez

April 16, 2002 – August 17, 2023

We honor Mason and the life he shared with his family and community. His stepmother, Havi Martinez, has volunteered and supported our efforts for years and has attended rare disease symposiums and legislative advocacy conferences with our director. Mason’s memory is part of why families continue to come together for people living with NPC.

From the Director

When my son Chase received his diagnosis on September 21, 2011, he was just two years old. I was trying to understand a disease I had never heard of and explain it to the very medical professionals who wanted to help. This is where I learned to be precise in my words and unfailing in my understanding of this disease. In our earliest and darkest days, in a frenetic tornado of learning and understanding before AI, when research and trials were mere concepts I found parents who taught me the things I needed to know. I endeavor to be that resource for as many others as I can.

What is Niemann-Pick type C?

Niemann-Pick Type C (NPC) is a rare, inherited lysosomal storage disease that disrupts how cells transport cholesterol and other lipids—fat-like substances essential to life. Lysosomes are small compartments inside our cells that break down and recycle materials. In NPC, changes in the NPC1 or NPC2 gene interfere with proteins that help move lipids out of these compartments. These materials accumulate, disrupting cell function and damaging organs, including the brain.

To understand those genetic changes, picture DNA as a twisted ladder—the double helix. Its instructions are written using four chemical “letters”: A, C, T and G. Their sequence provides the code our cells use to make proteins. A disease-causing change, also called a mutation or variant, can replace, add, delete or rearrange letters, altering those instructions. In NPC, this can leave the body making too little working NPC1 or NPC2 protein.

The type and location of these changes, and the combination inherited from both parents, can influence when symptoms begin and how the disease progresses. Some changes leave a protein with a degree of function; others severely disrupt it or prevent its production. Genetics helps explain the differences between people with NPC, but it cannot precisely predict every person’s course.

Parallels with Alzheimer’s and ALS can help someone unfamiliar with NPC understand its neurological effects. NPC can affect memory, learning and thinking, as Alzheimer’s does, while progressively impairing movement, speech and swallowing—abilities that ALS can take away. These comparisons describe shared effects, rather than identical diseases. A child who once ran, talked and ate independently may gradually need help with those activities. Symptoms can also begin in adulthood, and each person’s experience is different.

NPC follows autosomal recessive inheritance. We inherit two copies of each NPC gene, one from each parent. “Autosomal” means the gene is on a numbered chromosome, so children of any sex can be affected. “Recessive” means both copies of the same gene must have a disease-causing change for a person to develop NPC. Someone with one affected copy is a carrier and typically does not have the disease.

When both parents are carriers of changes in the same NPC gene, each pregnancy has a 25% chance of a child with NPC, a 50% chance of a child who is a carrier, and a 25% chance of a child who inherits neither change. Those chances begin anew with every pregnancy. NPC is not contagious, and parents do not cause it through something they did or failed to do.

When Chase was diagnosed, I remember being told that only about 500 cases were known worldwide. That number reflects what we understood in 2011, rather than a current count. What stays with me is how urgently we needed information, guidance and other parents who understood.

Why I keep asking people to connect

Families know what is at stake when a child who once ran and played begins to struggle with ordinary things. They have organized awareness campaigns, funded research, shared observations with scientists, and stood beside one another through devastating days. In 2011, there was no FDA-approved NPC treatment. The first two U.S. approvals for neurological symptoms came in 2024. That progress matters deeply, but there is still no cure.

Thank you for reading, asking questions, and letting me do my part to raise awareness of a disease that altered the course of my life. In that Kevin Bacon-like chain of connections, you may be closer to an NPC family than you realize. If you meet one of us or see an awareness campaign, please reach out. A conversation can lead to another family, a researcher, a supporter, or a step forward for the people living with NPC today.

With sincerest gratitude for your interest and support,
Shannon Reedy
Director · Chase the Cure

Family photo carousel

Our families, our community.

Family and foundation resources →

Scroll to see family portraits. Some are legacy families; others are living with NPC today.

Rachael and family
Rachael Kaflowitz

In memory; the work continues

JP Honsinger
JP Honsinger

Living with NPC

Hayley Koujaian
Hayley and Alec Koujaian

Hayley in memory; Alec living with NPC

Mason Martinez from the original Chase the Cure homepage
Mason Martinez

In memory · Havi Martinez and family

Family stories · resources

Find families and foundations worldwide.

Search this growing directory of NPC family efforts, patient organizations, and foundations. Each link opens its own site.

For more organizations and languages, explore the International Niemann-Pick Disease Alliance member directory ↗. Suggest a family page through email.

What is NPC · Dictionary & index

Making the language easier.

Plain-language definitions for terms families encounter in NPC care, genetic testing and research.

This family-focused index covers common terms, rather than every specialist term in the medical literature. Search a word or abbreviation, choose a topic, or browse by initial. Select a term to open its definition and reference.

AlleleGenetics

One version of a gene.

Reference ↗
ASMDDisease basics

Acid sphingomyelinase deficiency: the condition formerly called Niemann-Pick types A and B.

Reference ↗
AtaxiaSymptoms & care

Difficulty coordinating movement or maintaining balance.

Reference ↗
AutosomalGenetics

Located on a numbered chromosome, rather than a sex chromosome.

Reference ↗
BiomarkerTesting & measurements

A measurable biological sign used to study health, disease or treatment response.

Reference ↗
CarrierGenetics

Someone with one disease-causing gene copy who can pass it on.

Reference ↗
Cataplexy / gelastic cataplexySymptoms & care

Sudden loss of muscle strength, sometimes triggered by laughter.

Reference ↗
Cholesterol traffickingDisease basics

Movement of cholesterol between compartments within cells.

Reference ↗
ChromosomeGenetics

A structure that packages DNA and carries many genes.

Reference ↗
Clinical severity scale / NPC-CSSTesting & measurements

A structured scoring tool for tracking NPC symptoms and function.

Reference ↗
Clinical trialResearch & treatments

Research that assigns an intervention to study its effects in people.

Reference ↗
Cognitive impairmentSymptoms & care

Difficulty with thinking, memory or information processing.

Reference ↗
CohortResearch & treatments

A group of people studied together.

Reference ↗
Compound heterozygousGenetics

Having two different changes in the two copies of a gene.

Reference ↗
Cross-sectionalResearch & treatments

Observations made at one time point.

Reference ↗
Disease progressionDisease basics

Changes as a disease advances over time.

Reference ↗
DNAGenetics

The molecule that stores our genetic instructions.

Reference ↗
DysarthriaSymptoms & care

Difficulty producing clear speech because speech muscles are affected.

Reference ↗
DysphagiaSymptoms & care

Difficulty swallowing.

Reference ↗
DystoniaSymptoms & care

Involuntary muscle contractions that cause unusual movements or postures.

Reference ↗
Eligibility criteriaResearch & treatments

The requirements for who can join a study.

Reference ↗
Endpoint / outcome measureResearch & treatments

A specified measurement used to evaluate a study’s results.

Reference ↗
Expanded access / compassionate useResearch & treatments

A pathway for eligible patients to receive investigational treatment outside a trial.

Reference ↗
FibroblastTesting & measurements

A connective-tissue cell; skin-derived fibroblasts can be used in laboratory testing.

Reference ↗
Filipin stainingTesting & measurements

A laboratory stain used to examine cholesterol storage in cultured cells.

Reference ↗
Functional MRI (fMRI)Testing & measurements

MRI that uses blood-oxygen changes to study patterns related to brain activity.

Reference ↗
Gastrostomy tube (G-tube)Symptoms & care

A tube into the stomach for nutrition, fluids or medicines.

Reference ↗
GeneGenetics

A stretch of DNA containing instructions for a functional product.

Reference ↗
Genetic counselingGenetics

Help understanding genetic findings and what they mean for a family.

Reference ↗
Genetic testingGenetics

Testing DNA for changes associated with a condition.

Reference ↗
HepatosplenomegalySymptoms & care

Enlargement of both the liver and spleen.

Reference ↗
HeterozygousGenetics

Having different versions at a particular gene location.

Reference ↗
HomozygousGenetics

Having matching versions at a particular gene location.

Reference ↗
HPβCD / cyclodextrinResearch & treatments

A cyclodextrin derivative investigated in NPC research.

Reference ↗
INDResearch & treatments

Investigational New Drug application: a regulatory framework for investigational drug use.

Reference ↗
Informed consentResearch & treatments

A process of explaining research so someone can decide whether to participate.

Reference ↗
IntrathecalResearch & treatments

Delivery into the fluid surrounding the brain and spinal cord.

Reference ↗
Intravenous (IV)Research & treatments

Delivery through a vein.

Reference ↗
LipidDisease basics

A fatty substance used in cell structure and other body functions.

Reference ↗
LongitudinalResearch & treatments

Observations repeated over time.

Reference ↗
Lysosomal storage disorder (LSD)Disease basics

An inherited condition involving buildup of substances within lysosomes.

Reference ↗
LysosomeDisease basics

A cell compartment that breaks down and recycles materials.

Reference ↗
MRITesting & measurements

Magnetic resonance imaging: detailed body images using magnets and radio waves.

Reference ↗
Mutation / variantGenetics

A DNA change; not every variant causes disease.

Reference ↗
Natural history studyResearch & treatments

Research examining a disease’s course over time.

Reference ↗
NCT numberResearch & treatments

The unique identifier assigned to a study on ClinicalTrials.gov.

Reference ↗
Non-contrast MRITesting & measurements

MRI performed without administering a contrast agent.

Reference ↗
NPCDisease basics

Niemann-Pick Type C, an inherited disorder of cellular lipid transport.

Reference ↗
NPC1Genetics

A chromosome 18 gene; disease-causing changes in both copies can cause NPC.

Reference ↗
NPC2Genetics

A chromosome 14 gene; disease-causing changes in both copies can cause NPC.

Reference ↗
Observational studyResearch & treatments

Research that observes people without assigning an intervention.

Reference ↗
Open-labelResearch & treatments

A study in which participants and researchers know the assigned treatment.

Reference ↗
OxysterolTesting & measurements

A cholesterol-derived molecule; certain levels can help support an NPC evaluation.

Reference ↗
Pathogenic variantGenetics

A gene change that causes disease.

Reference ↗
Phase 1Research & treatments

Early trials emphasizing safety, dosing and how a drug behaves.

Reference ↗
Phase 2Research & treatments

Trials exploring effectiveness while continuing safety evaluation.

Reference ↗
Phase 3Research & treatments

Trials providing further evidence of benefits and risks, often in larger groups.

Reference ↗
Phase 4Research & treatments

Studies performed after a medicine is approved.

Reference ↗
PlaceboResearch & treatments

An inactive comparison treatment.

Reference ↗
PPCS / lysoSM-509Testing & measurements

A blood biomarker considered during NPC diagnostic testing.

Reference ↗
ProteinGenetics

A molecule that performs jobs such as transport, signaling or structural support.

Reference ↗
RandomizedResearch & treatments

Assigned to study groups by chance.

Reference ↗
RecessiveGenetics

For NPC, disease requires changes affecting both copies of the same gene.

Reference ↗
SeizureSymptoms & care

Abnormal brain electrical activity affecting awareness, movement or sensation.

Reference ↗
SpasticitySymptoms & care

Abnormally stiff or tight muscles.

Reference ↗
SplenomegalySymptoms & care

An enlarged spleen.

Reference ↗
Structural MRITesting & measurements

MRI used to examine the anatomy of structures such as the brain.

Reference ↗
Study sponsorResearch & treatments

The person or organization responsible for initiating and overseeing a study.

Reference ↗
Vertical supranuclear gaze palsy (VSGP)Symptoms & care

Difficulty moving the eyes vertically because of affected brain control pathways.

Reference ↗

Definitions and linked references reviewed October 11, 2026. For a broader reference, see NNPDF’s comprehensive glossary ↗ and NHGRI’s genetics glossary ↗.

NPC History · Family voices & research records

The people behind the progress.

An homage to the families whose stories, advocacy, fundraising and participation have helped shape the NPC community.

Many families. Many experiences.

NPC history belongs to the whole community: children and adults with NPC, parents, siblings, caregivers, advocates and the people working alongside them. Every family’s contribution matters, including those whose names never appeared in a headline.

The Hempel and Hadley families are starting points for exploring the early cyclodextrin story. Much of the disease's recent history has been focused on this promising option for delaying progression. Their accounts appear here alongside research publications, each attributed to its source. Families have had different experiences, hopes and perspectives; no single account speaks for everyone.

1992–1993 · NNPDF’s founding families

Building a community before connection was easy.

On February 10, 1992, six families met at the National Institutes of Health in Bethesda, Maryland. Facing threatened research funding and few answers for their children, they formed the Niemann-Pick Type C Foundation. In 1993, it became the National Niemann-Pick Disease Foundation, received nonprofit status, held its first family conference and awarded a research grant to Eugene Carstea to investigate NPC’s genetic cause.

Before today’s online resources and social media communities, these families created newsletters, distributed a family directory, mailed educational materials and organized research support. They helped families find one another and made shared knowledge more accessible.

Email listservs later offered another way to connect: a message sent to a group could reach other families, inviting questions, practical advice and support. NNPDF’s historical family-services page preserves this chapter of community-building. We honor the founding families and the connections they made possible.

Read NNPDF’s founding story ↗
Historical family support and listserv page ↗

Addi & Cassi · The Hempel family

Parents pursuing a possibility.

In 2009, ABC News reported on Chris Hempel’s efforts to obtain compassionate-use access to an experimental treatment for her twin daughters, Addison and Cassidy. The family’s own archive documents their early cyclodextrin applications and work with physician Caroline Hastings.

ABC News · 2009 report ↗
The family’s own records ↗

Peyton & Kayla · The Hadley family

A family sharing its journey.

The Hadley Hope April 2011 update describes Peyton and Kayla receiving cyclodextrin infusions. Their family videos and local reporting preserve a personal account of NPC, community support and the hopes surrounding experimental treatment.

Hadley Hope · April 2011 ↗
KOBI-TV · Family reporting ↗

In honor of Kaden Hartman · Kathy Tepper Hartman and family

Honoring Kaden’s life and his mother’s advocacy.

Kaden Hartman (April 5, 2004 – April 1, 2019) lived with Niemann-Pick Type C. His family’s published tribute remembers his positive outlook and the happiness he brought to others, along with his love of time outdoors with family, his pets, music and video games. It names his parents, Kathy and Michael Hartman, and preserves a picture of the person behind the diagnosis.

In March 2018, Kathy spoke publicly about the challenges the family faced maintaining access to experimental cyclodextrin treatment. That reporting preserves her account of advocating for her son’s care during a period when NPC families had few treatment options.

Kaden’s 2019 tribute invited memorial donations to Chase the Cure in his honor. We honor Kaden, Kathy Tepper Hartman and their family as part of the community whose experiences and advocacy belong in the story of NPC.

Family Choice Funerals · Kaden’s published tribute, 2019 ↗
Historical reporting · Kathy’s account, March 5, 2018 ↗

The Parseghian family

Building a foundation for research.

After Michael, Marcia and Christa were diagnosed with NPC in 1994, their parents Mike and Cindy joined Ara Parseghian in founding the Ara Parseghian Medical Research Foundation. Its history continues through the Medical Research Fund at Notre Dame.

Notre Dame · Ara’s Legacy ↗

In honor of Galya Chan · Brian Chan and the Chan family

A father investing in a genetic answer.

Galya Chan’s diagnosis brought her father, Brian, into the search for answers to NPC. A 2015 account from CHOC describes the family working with Dr. Raymond Wang to pursue experimental cyclodextrin treatment. Brian’s efforts also reached beyond his daughter’s care, helping support the research community’s search for new approaches.

The Chan family’s Fight NPC initiative is acknowledged as a sponsor of SOAR-NPC in its published 2016 history. That collaboration supported a range of therapeutic research, including gene therapy. Penn’s account also documents Brian’s support for a microscope needed by Charles Vite’s NPC research lab, while Vite’s faculty profile lists Galyatech as an NPC gene therapy initiative.

We honor the work he supported, the possibilities he pursued, and Galya, whose life inspired those efforts. Their contribution belongs in the history of families working to change what an NPC diagnosis could mean.

CHOC · Galya’s story, 2015 ↗
SOAR-NPC · Published history, 2016 ↗
Penn Vet · A father’s research gift (PDF) ↗
Penn · Historical gene therapy reference ↗

The Marella family · Dana’s Angels Research Trust

Turning a family’s search for answers into research for a community.

Phil and Andrea Marella founded Dana’s Angels Research Trust (DART) to support research, education and care for NPC. Their daughter Dana was diagnosed in 2002, after years of searching for an explanation for her visual and learning difficulties. Their youngest son, Andrew, was diagnosed in 2004. Dana and Andrew’s experiences gave the family’s work its urgency and purpose.

Through DART, the Marellas helped build SOAR-NPC—Support of Accelerated Research for NPC—a collaboration of families, foundations and scientists working together on potential therapies. Their contribution includes raising research funds and bringing people with different expertise together to move promising ideas toward clinical studies.

DART’s research record describes support for cyclodextrin development, biomarker studies, research into new therapeutic pathways, and blood testing that helped lay the groundwork for newborn-screening efforts. DART also became a founding member of the NPC Therapy Accelerator Initiative and supported the ScreenPlus newborn-screening pilot.

The Marella family and DART belong in NPC’s history as part of the sustained family effort to fund science, strengthen collaboration and improve the possibilities available to other families.

DART · The Marella family’s story ↗
DART · Research and collaborations ↗
SOAR-NPC · Collaboration recognized in 2016 ↗

The Papier family · Dillon’s Fight

A community showing up for Dillon and for NPC research.

Mark and Darrile Papier shared their son Dillon’s journey through Dillon’s Fight, helping others understand NPC and the need for research. Dillon inspired a network of supporters known as Dillon’s Army, bringing family, friends and their wider Maryland community into the effort to find answers.

The family’s fundraising became a lasting part of that work. Their website documents the annual Dillon Papier baseball benefit, organized through his grandmother, Maris Walker, with proceeds benefiting the National Niemann-Pick Disease Foundation. NNPDF’s historical event records also preserve community fundraisers held in Dillon’s honor.

The Papier family’s contribution is part of NPC history: sharing a child’s story, sustaining community involvement and turning that support into research funding.

Dillon’s Fight · The family’s website ↗
NNPDF · Historical family fundraising records ↗

The Spencer family · Johnathan’s Dreams

Sharing Johnathan’s journey and supporting the search for answers.

The Spencer family’s Johnathan’s Dreams initiative brings Johnathan’s experience with NPC into a wider mission of awareness, family support and research. Their organization shares his journey, organizes educational and fundraising efforts, and encourages connections among families, clinicians and researchers.

Their contribution also appears in the history of earlier diagnosis. A 2019 announcement about the ScreenPlus newborn-screening pilot lists the organization among the community supporters of the Firefly Fund’s NPC Newborn Screening Initiative.

Johnathan’s Dreams represents another way families have helped advance the NPC community: making the disease visible, supporting one another and contributing to collaborative efforts that may help future families find answers sooner.

Johnathan’s Dreams · Their mission ↗
Visit the Spencer family’s website ↗
2019 · Newborn-screening collaboration ↗

The Andrews family · Firefly Fund

Helping families find answers sooner.

Pam and Chris Andrews founded Firefly Fund after their daughters Belle and Abby were diagnosed with NPC. Belle’s diagnosis followed years of searching for answers; testing then identified NPC in her younger sister, Abby. Their family’s experience made earlier diagnosis and access to care central to their work.

The Andrews family advocated for investigational treatment closer to home at Dell Children’s in Austin. Through Firefly Fund, they also brought families, clinicians, researchers and other partners together around newborn screening. In 2021, Firefly announced a five-year, $500,000 commitment to the ScreenPlus pilot study, helping researchers evaluate screening for NPC and other rare conditions at birth.

Their contribution to NPC history connects a family’s search for care with research, education and efforts to shorten the diagnostic journey for others.

Firefly Fund · Belle and Abby’s story ↗
2021 · Supporting newborn-screening research ↗

The McGlocklin family · Hope for Marian

A family’s voice for research and treatment access.

Sara and Paul McGlocklin started Hope for Marian after their daughter Marian was diagnosed with NPC in 2017. Their work grew from navigating her care into a mission to support research, patient access to treatments and other families facing the same disease.

Sara has brought the experience of NPC families to Congress, the FDA, the Duke Margolis Center for Health Policy and industry discussions. Through the foundation and her writing, she shares Marian’s journey and helps families connect with information and support. Hope for Marian also appears among the community supporters of the Firefly Fund’s newborn-screening initiative in the 2019 ScreenPlus announcement.

The McGlocklin family’s work belongs in NPC history as an example of parents bringing lived experience into research, policy and decisions about treatment access.

Hope for Marian · Meet Marian ↗
The family and their advocacy ↗
Visit Hope for Marian ↗

The Chavez family · Ducks for Bucks

Breann’s love of ducks became practical support for families.

Jami and Lisa Chavez created Ducks for Bucks in memory of their daughter Breann, who left us in 2006 at the age of three. Breann loved ducks, and the family’s annual awareness and fundraising day brought that love into the Dainty Duck Dash, a rubber-duck race alongside activities for the whole community.

Their work focused on the everyday needs of families caring for children with NPC. NNPDF’s records describe medical equipment exchange services, fundraising through Ducks for Bucks and the Willow Wicks candle line, and support that reduced hotel costs for families attending NNPDF conferences.

Lisa joined the NNPDF board in 2007 and later served as chair. In 2020, NNPDF recognized her with its Persevere Award for her family-support work and leadership through a period of organizational transition.

The Chavez family’s contribution belongs in NPC history alongside scientific advances: helping families obtain equipment, come together and meet immediate needs while the search for better treatments continued.

NNPDF · Lisa Chavez’s 2020 Persevere Award ↗
Historical archive · Ducks for Bucks and Breann’s story ↗

The early cyclodextrin story

From a laboratory clue to clinical questions.

Cyclodextrin is a family of compounds. The research below concerns the derivative hydroxypropyl-β-cyclodextrin, often abbreviated HPβCD.

  1. Early 2000s–2007 onward

    Preclinical clues

    Mouse and cat research helped reveal HPβCD’s effects on stored cholesterol and NPC disease biology. Findings in animals motivated further work; they did not establish a cure in people.

    Source · 2014 development history ↗
  2. 2009–2010

    Early compassionate use

    The Hempel family’s early intravenous access began in 2009; a later authorization addressed delivery into the central nervous system. Permission for experimental use was distinct from approval to market a medicine.

    Source · 2019 case-history analysis ↗
  3. 2011

    Family experience becomes part of the record

    Hadley Hope shared an April update on Peyton and Kayla’s infusions, preserving the family’s perspective during this early period.

    Source · Family video ↗
  4. 2010–2013

    A collaborative clinical program

    The NIH’s TRND program brought research partners together to develop HPβCD. The 2014 development paper describes the preclinical work and transition to a phase I study.

    Source · Collaborative development paper ↗
  5. 2017

    Results and trade-offs

    A non-randomized, open-label phase 1–2 report described neurological findings and hearing loss. Its study design matters when interpreting treatment effects.

    Source · Original clinical report ↗
  6. 2019

    Expanded-access experiences

    A published analysis brought together twelve case histories. It added observations from individual care, rather than evidence from a randomized trial.

    Source · Expanded-access publication ↗
Cyclodextrin history · Names, sponsors and ownership

From the NIH trial to adrabetadex.

The cyclodextrin story includes a public research effort, a move into company-sponsored development, and several changes in ownership. Families following this work encountered different company and drug names over the years. This record follows the development program associated with the NIH intrathecal study, VTS-270 and adrabetadex.

On January 23, 2013, NIH began a phase I trial of hydroxypropyl-β-cyclodextrin (HPβCD), building on work by scientists, clinicians and patient organizations. The early NIH study is registered as NCT01747135 ↗. The formulation associated with this development line used Roquette’s Kleptose HPB as its active ingredient. Under Vtesse, the investigational product became known as VTS-270; later records use the name adrabetadex.

The documented development and ownership sequence
DateOrganization and nameWhat changed
2013NIH · HPβCD / Kleptose HPBNIH launched the early clinical study of cyclodextrin delivered into the fluid surrounding the spinal cord.
NIH trial history ↗ · Formulation reference ↗
2015Vtesse · VTS-270Vtesse adopted the cyclodextrin-NPC project in January and began a phase IIb/III trial later that year, advancing development through collaboration with NIH.
NIH account of the transition ↗
April 3, 2017Sucampo · VTS-270Sucampo completed its acquisition of Vtesse for an initial $200 million. The acquired program included VTS-270.
Sucampo’s SEC transaction record ↗
February 13, 2018Mallinckrodt · VTS-270 / adrabetadexMallinckrodt completed its acquisition of Sucampo, bringing the program into Mallinckrodt’s development portfolio. Adrabetadex appears in later program records as another name for VTS-270.
Mallinckrodt’s acquisition announcement ↗
July 1, 2021 announcementMandos LLC · adrabetadexFollowing bankruptcy court approval, Mandos announced the completed purchase of the adrabetadex assets from Vtesse LLC, then a Mallinckrodt subsidiary. The announcement described transferring sponsorship and working to continue North American expanded access and investigator-initiated studies.
Completed acquisition announcement (PDF) ↗
2021–2026Beren Therapeutics, through Mandos · adrabetadexBeren identifies Mandos as its subsidiary and the vehicle for the 2021 acquisition. Beren’s name represents the parent company in this history, rather than a separate later sale.
Beren’s program timeline ↗

The program also faced setbacks. Beren’s historical timeline records that the phase IIb/III study did not show a significant difference on its co-primary endpoint in 2019, and that Mallinckrodt terminated the program during its 2020 bankruptcy period. The 2021 acquisition was followed by renewed analysis and development efforts under Mandos and Beren.

Mandos reported that Beren submitted an application for infantile-onset NPC on December 17, 2025. Beren announced FDA acceptance for review on February 23, 2026, initially with an August 17 target date. Its May 28 update moved the target decision date to November 17, 2026. As of this October 10, 2026 source review, the sponsor continues to describe adrabetadex as investigational; an application, review target date or special designation is not marketing approval.

Mandos · NDA submission letter ↗ · Beren · FDA review acceptance ↗ · Beren · Revised review date ↗

Following the names accurately

HPβCD describes a family of mixtures. Kleptose HPB, VTS-270 and adrabetadex are names associated with this particular development line. Trappsol Cyclo is a separate cyclodextrin product and program, not another name or a subsequent owner of adrabetadex.

Disclosure

Chase held a compassionate-use Investigational New Drug (IND) authorization and began receiving Trappsol cyclodextrin in 2012. He later received another cyclodextrin product, known at the time as Kleptose, whose subsequent development has involved several name changes. His medical journey was documented as one of the twelve patient case histories in the 2019 article by Hastings and colleagues.

In 2017, after Chase retired, Shannon Reedy served as a patient liaison for CTD Holdings, now known as Cyclo Therapeutics. These experiences form part of her personal and professional connection to the cyclodextrin history shared here.

Read the 2019 article by Hastings and colleagues ↗

Cyclo Therapeutics · Supporting the first compassionate-use families

Cyclo Therapeutics, then known as CTD Holdings, supplied cyclodextrin to some of the first NPC families pursuing compassionate-use treatment under investigational new drug (IND) protocols. In its historical account, the company credits Dr. Caroline Hastings, the Hempel family and their team with developing the first protocol using its product, with intravenous treatment beginning in 2009. The family shared the protocol online, helping other physicians and families pursue access in the United States and abroad.

Those early family and physician experiences helped inform the company’s development of Trappsol® Cyclo™, its investigational formulation of hydroxypropyl-β-cyclodextrin (HPβCD). Cyclo Therapeutics is now a wholly owned subsidiary of Rafael Holdings. Its subsequent work includes clinical studies of intravenous Trappsol Cyclo, including the Phase 3 TransportNPC study. Trappsol Cyclo remains investigational; permission for compassionate use is distinct from FDA approval.

Sources: CTD’s 2019 history presentation ↗ · Dr. Hastings’ letter to the NPC community ↗ · Rafael Holdings’ ownership announcement ↗

Cyclo Therapeutics ↗ · TransportNPC · NCT04860960 ↗ · NNPDF’s Cyclo research updates ↗

These are historical accounts and study findings. Original articles retain the language and knowledge of their time. The history of one compound is one chapter in the wider NPC story.

Read & explore

Family accounts, articles and research.

Open the original source to read the full account in its own context.

Chavez family · Ducks for Bucks

Breann’s legacy of practical family support

NNPDF’s account of Lisa Chavez, Ducks for Bucks, equipment exchange and support for family conference attendance.

Read NNPDF’s recognition of their work ↗
McGlocklin family · Hope for Marian

Marian’s story and her family’s advocacy

Meet Marian and learn about the family whose work supports NPC research and treatment access.

Read Marian’s story ↗
Papier family · Dillon’s Fight

Dillon’s story and a community’s research support

The family’s website preserves Dillon’s story and their annual baseball benefit supporting NNPDF.

Visit Dillon’s Fight ↗
Spencer family · Johnathan’s Dreams

Awareness, family connections and research

The Spencer family’s initiative shares Johnathan’s journey and its mission to support the NPC community.

Read about Johnathan’s Dreams ↗
Marella family · DART

Dana and Andrew: the family behind DART

Phil and Andrea Marella’s account of their children’s diagnoses and the purpose behind Dana’s Angels Research Trust.

Read the family’s story ↗
DART · Research collaboration

Supporting therapies, biomarkers and earlier diagnosis

DART’s record of SOAR-NPC collaboration, cyclodextrin research, biomarker development and newborn-screening support.

Explore DART’s research contributions ↗
1992–1993 · Foundation history

NNPDF’s six founding families

NNPDF’s own account of the families who formed the foundation, organized support and funded early research.

Read the founding story ↗
Historical community resources

Connecting through newsletters and listservs

A historical NNPDF/Canadian foundation page documenting family services and email discussion groups. This is a historical reference, rather than current enrollment information.

Explore the historical resource ↗
2015 · CHOC

Galya Chan’s early treatment journey

The hospital’s account of the Chan family and Dr. Raymond Wang pursuing an individualized experimental treatment protocol.

Read Galya’s story ↗
2016 · Research collaboration history

Fight NPC and the Chan family’s support for SOAR-NPC

A published history acknowledging the Chan family among its sponsors and describing collaborative research, including gene therapy approaches.

Read the collaboration history ↗
2009 · ABC News

Mom Finds Experimental Drug for Twins’ Fatal Condition

Lauren Cox’s reporting on Chris Hempel, Addi and Cassi, and the pursuit of permission for experimental treatment.

Read the Hempel family report ↗
2009–2010 · Family archive

The Hempel family’s cyclodextrin filings

Chris Hempel’s account and linked application documents from the family’s early compassionate-use efforts.

Read the family archive ↗
April 2011 · Hadley Hope

Hadley Hope Update April 2011

A family video about Peyton and Kayla and their experience beginning cyclodextrin infusions.

Watch the Hadley family update ↗
2012 · Hadley Hope

Hadley Hope 2012 Update

A follow-up family video reflecting on the years after two children’s NPC diagnoses.

Watch the 2012 update ↗
Historical reporting · KOBI-TV

A Rare Disease: Living with Childhood Alzheimer’s

Local reporting on the Hadley family, community support and their treatment experience. The headline uses a historical shorthand for NPC.

Read the Hadley family report ↗
Foundation history · University of Notre Dame

Ara’s Legacy

The Parseghian family’s NPC history and the origins of their research foundation, now a fund at Notre Dame.

Read the foundation history ↗
2014 · Ottinger and colleagues

Collaborative Development of 2-Hydroxypropyl-β-Cyclodextrin for the Treatment of Niemann-Pick Type C1 Disease

A scientific account of preclinical work, early access and the NIH collaboration that moved HPβCD toward clinical studies.

Read the research history ↗
2017 · Ory and colleagues

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick Type C1: a non-randomised, open-label, phase 1–2 trial

The original study report, including its design, neurological observations and hearing-related adverse effects.

Read the clinical study ↗
2019 · Hastings and colleagues

Expanded access with intravenous hydroxypropyl-β-cyclodextrin to treat children and young adults with Niemann-Pick Type C1: a case report analysis

Twelve individual case histories from expanded access. These observations were not a randomized comparison.

Read the expanded-access report ↗

Your family belongs in this history.

This collection begins with a few documented chapters; it is not a complete record of every family’s contribution. Help us recognize the many voices behind NPC awareness, care and research. Share a family account, article or historical document for review.

Share a history contribution

Historical source review: October 11, 2026. Original report and publication dates are preserved. Linked family accounts do not establish anyone’s current health or treatment status. The Hempel family’s FDA-filings archive could not be retrieved during this review; the dated ABC News report remains available.

Research we support · 2026

Measure what matters to people living with NPC.

One research effort that we currently support is a brain biomarker and disease characterization program led by Jaymin Upadhyay, PhD, at Boston Children’s Hospital and Harvard Medical School.

Supported by Chase the Cure, Inc. · 501(c)(3) nonprofit

Public research references reviewed October 11, 2026. Presentation-derived enrollment figures below remain historical and have not been independently confirmed as current; contact the research team for current participation information. Organizational fundraising and support figures are supplied by Chase the Cure.

What this work seeks to answer

The team is looking for objective, noninvasive measures of neurological changes that reflect how a person with NPC is functioning. Brain imaging and other measures may help track progression and, eventually, show whether current or future treatments are changing it. This is a biomarker study, not a drug trial or a claim that a cure has been found.

Interviews with patients and families helped shape the research priorities: cognition, motor function, speech, and psychiatric symptoms. The program also examines swallowing and other clinical concerns important to daily life.

How the study works

Over a one- to two-day visit, the study combines clinical and functional testing, speech assessment, structural and functional MRI, functional near-infrared spectroscopy (fNIRS), and blood and proteomic work. The researchers are exploring non-contrast MRI without sedation where feasible, connecting brain findings to function families can see and NPC patients experience. In the research presentation described to Chase the Cure, 15 people with NPC had cross-sectional evaluations, four had approximately two-year follow-up, and enrollment reached 34 by September 2026. These are historical study figures, not a current enrollment count.

Why support measurement?

Reliable biomarkers could give future studies more sensitive ways to understand neurological progression and to evaluate treatment response. This work helps build the tools needed to judge what changes for patients.

Read the published patient and caregiver perspective ↗ · See the study information from NNPDF ↗

Ask how to support this work →Donate Here →
Organizational support

Work our community helped advance.

Together, Chase the Cure and our supporters have raised more than $500,000 for NPC research. The efforts below are part of that history.

2011–Present

Compassionate use and research support

We support physicians undertaking Compassionate Use INDs, those seeking to expand INDs and research efforts that may go unfunded due to limited resources.

Institutional support

Supporting physicians on the front lines

We provide support to institutions hosting physicians who treat NPC and actively work with members of our community. These physicians are on the front lines, documenting patients’ experiences and advancing therapies and potential cures in real time.

These institutions include:

  • UCSF
  • Rush Medical Center
  • Albany Medical Center
  • Children’s National Hospital
Community partnerships

Research and awareness

We also support research and awareness efforts at the National Niemann-Pick Disease Foundation (NNPDF), the Ara Parseghian Medical Research Fund (APMRF), and Hope for Marian.

2014 · Team NPC

Million Dollar Bike Ride

Chase the Cure joined Friends of JP, I Pedal for Chad, and Pedaling to Persevere for the University of Pennsylvania’s first Million Dollar Bike Ride for rare disease research. The original site reports that Team NPC helped raise $85,000 toward NPC research, connected with a pilot grant and a postdoctoral fellowship.

Research funding acknowledgment

Clinical measures and natural history

Published NPC research on the five-domain clinical severity scale and a cohort study of liver disease acknowledge Chase the Cure funds alongside support from other family organizations and research partners. This is a record of shared support, without claiming sole sponsorship.

Clinical severity study ↗
Liver disease cohort ↗
Connect. Learn. Take action.

Upcoming Events

Fundraisers, conferences, symposiums and legislative advocacy opportunities for NPC families, researchers, clinicians and supporters.

Events and organizer calendars checked through October 11, 2026. Upcoming dated events appear alongside calendars awaiting new announcements. Registration and assistance deadlines below reflect the organizer’s published information at this review; follow each source for later changes.

Fundraisers

October 12 – November 13, 2026

Team RARE 26.2

Hybrid

A fundraising opportunity supporting the broader rare disease community through the RARE Foundation. Registration closes October 29, 2026.

Organizer details ↗
Advocacy

October 14, 2026 · 1–2 p.m. EDT

Rare Disease Congressional Caucus Briefing

Online

A briefing on modernizing healthcare data and clinical trials to help accelerate rare disease diagnosis and treatment development.

Organizer details ↗
Conferences

October 25–27, 2026

NORD Rare Diseases & Orphan Products Breakthrough Summit

Washington, D.C.

Connect with patient advocates, researchers, industry and policymakers around rare disease research, treatment development and access.

Organizer details ↗
Symposiums

January 31 – February 4, 2027

WORLDSymposium 2027

San Diego, California

A scientific meeting focused on lysosomal diseases, with research presentations, clinical updates and patient advocacy participation.

Organizer details ↗
Advocacy

March 2–4, 2027

Rare Disease Week on Capitol Hill

Washington, D.C.

A free event offering policy education and opportunities to speak with Members of Congress. Registration is scheduled to open January 6, 2027. Travel reimbursement applications are open; see the organizer’s eligibility and application information.

Organizer details ↗
Fundraisers

Watch for the next event

Ara Parseghian Medical Research Fund events

NPC research fundraising

Find NPC research fundraisers, including the Parseghian Classic and Bike Ride for a Cure. The July 24–27, 2026 Parseghian Classic has passed; use the organizer’s calendar for future dates.

Organizer details ↗
Fundraisers

Watch for the next event

Dana’s Angels Research Trust events

NPC research fundraising

Follow DART’s charity walks and other NPC research fundraising opportunities. The October 3, 2026 walk has passed; look here for the next announcement.

Organizer details ↗
Conferences

Watch for the next conference

NNPDF Family Support & Medical Conference

Niemann-Pick community

A gathering for families, clinicians and researchers to share medical updates and community support. The July 9–11, 2026 conference in Orlando has passed. Recordings are available; a 2027 conference date was not found on the organizer’s conference page at this review.

Organizer details ↗
Conferences

Organizer calendar

NNPDF family events and community gatherings

NPC and ASMD families

Find regional gatherings, family connections, registration information and any available travel assistance directly from NNPDF.

Organizer details ↗
Symposiums

Watch for the next symposium

NORD Rare Disease Scientific Symposium

Rare disease science

Explore translational research, clinical development and patient perspectives. NORD has referenced a 2027 symposium; dates and registration are not confirmed here.

Organizer details ↗
Conferences

Organizer calendar

Global Genes events

Rare disease community

Browse advocacy summits, educational programs and events for families, advocates, clinicians and research partners.

Organizer details ↗
Advocacy

Year-round opportunities

RDLA / RARE Advocates: legislative advocacy

National, state and virtual

Find the advocacy work familiar to many families as RDLA. EveryLife is now the RARE Foundation; its current pages offer policy resources, training and ways to get involved.

Organizer details ↗
Advocacy

Watch for the next opportunity

RARE Across America & State Advocacy Days

Home-state and virtual advocacy

Learn how to share your story with lawmakers and prepare for legislative meetings. The 2026 Rare Across America registration is closed; check for future opportunities.

Organizer details ↗

Legislative advocacy: start here

Your family’s experience can help lawmakers understand diagnosis, access to care and the need for continued research.

Rare Disease Week ↗State Advocacy Days ↗RARE Advocates calendar ↗
Published NPC research

Explore the work behind the progress.

Selected publications by researchers whose work has helped us understand NPC, investigate therapies and improve diagnosis.

Publication sources reviewed October 11, 2026. The 22 journal records were checked against PubMed metadata and abstracts, and the 2026 conference poster was checked against its source PDF. Original publication years and study data cutoffs are preserved; this is a selected bibliography, not a complete list of all NPC research.

23 publications

Peter G. Pentchev

1985 · Laboratory study

A defect in cholesterol esterification in Niemann-Pick disease (type C) patients

Pentchev and colleagues

Examines how cells from people with NPC handle cholesterol. This early work helped establish the cholesterol-processing defect underlying the disease.

PubMed · Full publication details ↗Read free full text ↗
Peter G. Pentchev

1986 · Laboratory study

Type C Niemann-Pick disease: loss of cholesterol regulatory responses

Pentchev and colleagues

Studies cholesterol uptake and storage in cultured fibroblasts, showing how NPC cells lose normal feedback responses when processing LDL-derived cholesterol.

PubMed · Full publication details ↗
Charles H. Vite

2015 · Animal study

Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease

Vite and colleagues

Investigates delivery of cyclodextrin into cerebrospinal fluid in cats with NPC1, including neurological function, survival and hearing effects. These are animal findings.

PubMed · Full publication details ↗Read free full text ↗
Charles H. Vite

2014 · Research review

Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease

Ottinger and colleagues · co-author Charles H. Vite

Explains how academic, NIH, nonprofit and industry partners moved cyclodextrin from preclinical research toward an investigational clinical program.

PubMed · Full publication details ↗Read free full text ↗
Benny Liu

2010 · Animal study

Cyclodextrin and cholesterol transport in NPC1 mice

Liu and colleagues

Investigates how cyclodextrin changes cholesterol movement and metabolism across organs in NPC1 mice, including conversion of stored cholesterol into bile acids.

PubMed · Full publication details ↗Read free full text ↗
Benny Liu

2012 · Research review

Therapeutic potential of cyclodextrins in the treatment of Niemann-Pick type C disease

Benny Liu

Reviews early cyclodextrin biology and preclinical evidence, explaining why researchers began investigating its potential for NPC.

PubMed · Full publication details ↗Read free full text ↗
Norbert L. Wiech

2013 · Research review

Treatment of Niemann-Pick Type C Disease by Histone Deacetylase Inhibitors

Helquist, Maxfield, Wiech and Wiest

Explores histone deacetylase (HDAC) inhibitors as a possible way to improve function of certain altered NPC1 proteins and reduce cholesterol storage. Focuses on laboratory findings and treatment-development questions.

PubMed · Full publication details ↗Read free full text ↗
Caroline Hastings · Benny Liu

2019 · Case report series

Expanded access with intravenous hydroxypropyl-β-cyclodextrin to treat children and young adults with Niemann-Pick Type C1: a case report analysis

Hastings and colleagues · co-authors Benny Liu and Raymond Y. Wang

Documents twelve expanded-access patient histories, including treatment experiences over several years. These individual observations are distinct from a randomized comparison; Chase’s journey was among the cases, as shared by his family.

PubMed · Full publication details ↗Read free full text ↗
Caroline Hastings · Benny Liu

2023 · Clinical trial

Intravenous Trappsol Cyclo: results of an international 48-week Phase I/II trial

Sharma and colleagues · co-authors Caroline Hastings and Benny Liu

Reports safety, drug exposure and clinical observations during 48 weeks of intravenous Trappsol Cyclo. Twelve participants enrolled and nine completed the study; it had no placebo control.

PubMed · Full publication details ↗
Rami A. Ballout · Silvana Zanlungo · Andrea Dardis

2023 · Research review

Understanding the phenotypic variability in Niemann-Pick Type C (NPC): a need for precision medicine

Las Heras and colleagues · co-authors Rami A. Ballout, Silvana Zanlungo and Andrea Dardis

Explores why NPC can differ between people, including remaining protein function, other genes and environmental influences, and how those differences may inform more individualized care.

PubMed · Full publication details ↗Read free full text ↗
Marc C. Patterson

2007 · Clinical trial

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

Patterson and colleagues

An early randomized study assessing miglustat in NPC, including eye-movement measurements and other neurological outcomes.

PubMed · Full publication details ↗
Marc C. Patterson

2017 · Diagnostic recommendations

Recommendations for the detection and diagnosis of Niemann-Pick Type C: An update

Patterson and colleagues

Describes clinical clues, biomarkers and genetic testing used to identify NPC. Published in December 2017, this article provides a record of diagnostic recommendations at that time.

PubMed · Full publication details ↗
Eugen Mengel · Mark Walterfang

2013 · Research review

Niemann-Pick Type C symptomatology: an expert-based clinical description

Mengel and colleagues · co-author Mark Walterfang

Explains patterns of visceral, neurological and psychiatric symptoms that can help clinicians recognize NPC and reduce diagnostic delays.

PubMed · Full publication details ↗
Mercè Pineda · Mark Walterfang · Marc C. Patterson

2018 · Research review

Miglustat in Niemann-Pick Type C patients: a review

Mercè Pineda, Mark Walterfang and Marc C. Patterson

Brings together published miglustat research on neurological function, swallowing, imaging and survival, drawing on clinical trials and observational studies.

PubMed · Full publication details ↗Read free full text ↗
Frances M. Platt

2008 · Laboratory study

Niemann-Pick Type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

Lloyd-Evans and colleagues · co-author Frances M. Platt

Investigates how sphingosine accumulation and disrupted calcium regulation affect lysosomal function in NPC1, helping explain mechanisms behind abnormal lipid trafficking.

PubMed · Full publication details ↗
Mark Walterfang

2006 · Case report series

The neuropsychiatry of Niemann-Pick type C disease in adulthood

Walterfang and colleagues

Describes adult NPC cases with psychiatric presentations and discusses how neurological, cognitive and psychiatric changes can overlap and complicate diagnosis.

PubMed · Full publication details ↗
Elizabeth Berry-Kravis

2018 · Case report series

Long-Term Treatment of Niemann-Pick Type C1 With Intrathecal 2-Hydroxypropyl-β-Cyclodextrin

Elizabeth Berry-Kravis and colleagues

Follows three people receiving intrathecal cyclodextrin through expanded access. Describes neurological assessments and treatment-related effects, including hearing changes; this small series had no randomized control group.

PubMed · Full publication details ↗Read free full text ↗
Elizabeth Berry-Kravis · Caroline Hastings

2026 · Observational study

Long-term real-world safety and effectiveness of arimoclomol in individuals with NPC: Outcomes from the US early access program over a 4-year period

Elizabeth Berry-Kravis and colleagues · co-author Caroline Hastings

Reports safety and clinical severity measurements from 109 participants in a US arimoclomol early access program. Follow-up extended to four years, with fewer participants assessed at later visits; these are observational data.

PubMed · Full publication details ↗
Elizabeth Berry-Kravis · Natasha Shur

2026 · Conference poster

Early evidence of an emerging NPC treatment paradigm: adrabetadex use alongside arimoclomol and/or N-acetyl-L-leucine

Elizabeth Berry-Kravis and colleagues · co-author Natasha E. Shur

A 2026 conference poster describing treatment sequencing and combinations in an adrabetadex expanded access program, using a March 1, 2026 data cutoff. These preliminary observations are a conference presentation, rather than a peer-reviewed journal article.

Read research poster (PDF) ↗
Raymond Y. Wang · Elizabeth Berry-Kravis · Charles H. Vite

2020 · Laboratory study

Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick Type C

Sidhu and colleagues · co-authors Raymond Y. Wang, Elizabeth Berry-Kravis and Charles H. Vite

Evaluates the lipid biomarker N-palmitoyl-O-phosphocholineserine (PPCS) for NPC diagnosis and assessment of response to cyclodextrin treatment.

PubMed · Full publication details ↗Read free full text ↗
Raymond Y. Wang · Elizabeth Berry-Kravis

2020 · Laboratory study

Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-Pick Type C1

Sidhu and colleagues · co-authors Raymond Y. Wang and Elizabeth Berry-Kravis

Examines a glycinated bile acid biomarker as a tool for NPC1 diagnosis and assessment of treatment response.

PubMed · Full publication details ↗Read free full text ↗
Raymond Y. Wang · Frances M. Platt

2017 · Case report series

Case Report: Ursodeoxycholic acid treatment in Niemann-Pick Type C; clinical experience in four cases

Evans and colleagues · co-authors Raymond Y. Wang and Frances M. Platt

Describes clinical experience with ursodeoxycholic acid in four people with NPC. This is a small case report series, rather than a controlled clinical trial.

PubMed · Full publication details ↗Read free full text ↗
About Chase the Cure

Built by families. Powered by community.

A 501(c)(3) nonprofit devoted to helping treatments move from laboratories toward people living with NPC.

Our mission

Chase the Cure, Inc. was established in 2011. Families and friends affected by Niemann-Pick Type C volunteer their time to support research, share information, and help other families feel less alone.

A 100% volunteer organization

We are a 100% volunteer organization. Our costs are strictly administrative, such as web hosting, filing fees, or technology subscriptions. Board members who attend conferences and meetups pay for their own tickets or apply for stipends from other organizations.

It is very important to us that we fully support the work to which we are committed. We welcome support from anyone moved to help.

Get in touch

Email hello@chasethecure.net.

A small leadership gallery for today’s launch. The oval cameo frames are in place now and can be swapped for individual headshots whenever you are ready. Where a public LinkedIn profile could be confidently identified, the person’s name is linked below.

Shannon Reedy
Executive Director
Havi Martinez
Director at Large
Donna Honsinger
Director at Large

Scientific advisors

Give and get involved

Help move hope forward.

Every gift and every conversation can help bring more people into the effort for NPC families.

In memory of Rachael · In support of NPC families

Thanks for Giving 2026

Help give loved ones with NPC more time. Debbie Kaflowitz historically led Thanks for Giving in memory of her daughter Rachael. Chase the Cure continues that effort in 2026. Thank you for giving.

Make a donation

Your gift helps advance NPC research and awareness. Thank you for supporting our volunteer-led mission.

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Other ways to help

  • Share a family story or a verified NPC resource.
  • Host a run, gathering, or personal fundraiser.
  • Offer practical support to an NPC family in your community.

Want to organize an effort with Chase the Cure? Send us a note.

AWARENESS · CONNECTION · HOPE

October isNiemann-Pick DiseaseAwareness Month

Awareness begins with a story.

Homemade green October awareness poster with an orange pumpkin and purple ribbon. It reads: October is Niemann-Pick Disease Awareness Month.
Our original awareness poster · NIH, October 2011

This handmade poster carries a piece of our beginning. Learn about our journey and the path we've left to travel. We need your support. Thank you.

Learn about NPC Meet the families
Midsummer Sky · solo piano