In the United States there are presently no FDA approved treatments for Niemann Pick C.
National Heritage Study at the National Institute for Health
We just wanted to make sure everyone out there knows about the National Heritage Study going on RIGHT NOW at the National Institute for Health. If you are a family member or friend of someone with NPC please share this information. We were in Maryland Oct 4th-7th and learned an incredible amount of information in a very short period of time from Dr. Forbes "Denny" Porter and RN Nicole Yanjanin. We met with physicians, OT & PT, had invaluable base line testing done and rec'd a ton of hints designed to help our son with Niemann Pick C. Value cannot be placed on what we got while there, this lysosomal storage disease is so rare that local physicians often learn about it with the parents, as is our case. They gave us literature and contact information to help us assemble the best team we possibly could for our son at home. Everyone with this diagnosis deserves an opportunity to know what options are available to them.
We are fortunate, we have Health Care. What we also learned is that even if we did not the severity of his diagnosis automatically qualifies him for Medicare. Additionally some families may qualify for Social Security Income for their children. Reach out to your county Health Department and you will find people to help you. If you need help getting started with anything, email us. See the contact page.
This study and getting you to it is FREE. All of us need your childs information. At the time we were there 57 children were enrolled in the study. There are more of us than that living in the US affected by NPC. The more we know about these kids the easier and quicker it is going to be to treat them. The NIH flies your family there, offers meal vouchers and provides you with a room at the children's inn on the campus. It may be difficult for you as a family to navigate this with work, email RN Nicole Yanjanin and discuss it. Where there is a will, there is a way. We both have full time jobs and 2 other chronic illneses in our lives, in addition to having an older son who leads a full normal life. It is doable, the NIH can help you out and what you learn there is going to help immensely. Please contact them to get involved in the study.
Nicole Yanjanin, MSN, CPNP
Section on Molecular Dysmorphology
Program in Developmental Endocrinology and Genetics NICHD, NIH, DHHS
10 Center Drive, Bldg. 10/9D42
Bethesda, MD 20892
There is a clinical trial that is about to be proposed to the FDA and will be run by Dr. Denny Porter and RN Nicole Yanjanin at the National Institute for Health. The hope is to begin in early 2012. It is not likely our 20lb Chase will be selected for participation in any initial phase studies as dosing determinations are the biggest obstables at this time. They anticipate using an Ommaya port to infuse cyclodextrin directly into the brains of these children and young adults, effectively crossing the blood/brain barrier.
Zavesca is not a cure for NPC, but it has shown promise in treating symptoms related to NPC and in slowing the progression of the disease for some patients. Health Canada recently announced its approval of the drug Zavesca as the first authorized treatment for neurological symptoms of Niemann-Pick Disease Type C -(nnpdf.org)
At this time cyclodextrin shows the most promise for NPC patients. In test tubes Cyclodextrins are shown to extract cholesterol from cells, in the same way that products like Fabreze use cyclodextrins to remove odors from the air. They have also shown promise in cats and mice in the lab. The average life span of a mouse is 2 years. Mice with NPC that have been treated with Cyclodextrins add an average of 180 days to their life cycles. Mice treated with Zavesca (Miglustat) enjoy an extension of life of approximately 18-20 days. This data shows promise...so why isn't everyone on it right now? The issue with crossing over to human applications revolves around the best methods and amounts of dosing.
Support their families*Look into Holistic Cures*Exercise their brains and Bodies*Enroll children in Early Intervention Programs*Decide to get educated about Niemann Pick C and what the outcome is if no action is taken.
In our opinion you need a very good pediatrician as the foundation of your team. This person will likely become an extended part of your family based on the amount of time you will be spending together to keep your child feeling well overall.
Get a good Neurologist who tracks your child's progress and can be on hand in the event any seizure medications are necessary.
Gastronenterologist is important too, many of these children will need G Tubes for feeding. As you have learned most present with liver disease and an enlarged spleen.
Pulmonory is key. Aspiration is unfortunately a part of this disease. The gastroenterologist and pulmonary doc will run into one another as they treat.
Genetics, you may need genetic counseling. You may also be lucky enough to find one that is willing to be a lead investigator for you should you choose to pursue orphan drug treatment. You don't need a geneticist for this, but its logical.
Physiatrist- a great doc that helps prescribe orthotics and works in tandem with PT.
In the United States there are presently four children from two different families undergoing Cyclodextrin Therapy. There have been zero adverse events reported in human Cyclodextrin use as of this typing, despite thousands of infusions in the United States as well as abroad. All told there are eleven children in the world on Cyclodextrins.