Saving Joseph

Our 4 year old son Joseph Colton has Niemann-Pick disease type A/B.   The Niemann-Pick (NP) diseases belong to a family of 40+ inherited disorders identified as lysosomal storage diseases or LSDs.  There are two distinct sub-families of Niemann Pick diseases.  NPA and NPB diseases are caused by defects in the acid sphingomyelinase gene (ASM) on Chromosome 11.   On the other hand, Niemann Pick Type C (NPC) is caused by defects on an entirely different gene (Chromosome 18) that is involved in cholesterol metabolism.  As lysosomal storage disorders, they share some similar features such as enlarged liver and spleen.

As is typical for NPA/B disease, Joseph has splenomegaly (enlargement of the spleen) and hepatomegaly (enlargement of the liver) and his lungs are also affected. We are not sure how impacted Joseph is neurologically. He is behind in most areas, but that may be due, in part, to him not walking around exploring and playing with other kids.

In some areas, Joseph seems to be progressing at a slow pace and his walking recently stopped. We are very concerned this might be the start of a gradual regression and loss of skills. We are looking at all possible treatments for Joseph. In June 2009, we visited researchers at Mt. Sinai who are testing an enzyme developed by Genzyme and just completed phase 1.

Dr. Melissa Wasserstien and Dr. Margaret McGovern are extremely knowledgeable researchers of Niemann-Pick types A and B and I would recommend anyone who has this disease to visit them at Mt. Sinai in New York. We are desperately trying to get access to the enzyme they have developed with Genzyme but are not having much luck. We have also recently looked into bone marrow transplant.

Here is a summary of the treatment approaches we have and are considering for our son. We are hoping the information we’ve gathered will help other parents in a similar situation as ours.

Bone Marrow Transplant
It appears we are too late for bone marrow transplant since Joseph’s liver, lungs, and kidneys need to all be in good shape and Joseph’s liver function is poor. Also, bone marrow transplant would likely not help neurological function and would exclude us from clinical trials like the enzyme replacement therapy Genzyme is working on. It seems very few lysosomal disease patients could benefit from this approach because any severe case would have neurological issues and any non-severe case would probably not want to risk the procedure since there is a high risk of death from the transplant itself. I was told that if you get the transplant within 3 months, the neurological issues may be fixed, so parents who have prenatal testing have a shot at overcoming the disease with immediate bone marrow transplant.

Enzyme Replacement Therapy (Genzyme)
Enzyme Replacement Therapy is very promising approach and just finished phase 1 of a clinical trial at Genzyme. However, the rhASM drug was only given to adults in phase 1 and we are not optimistic that children will be allowed into phase 2. This is extremely frustrating and we are disappointed that Genzyme has not granted emergency access to anyone given that Enzyme Replacement Therapy has worked for decades in other similar diseases (such a Gaucher’s) and the eleven patients in phase 1 had only minor issues. The phase 1 results are encouraging to us since we were previously told the first dose of the enzyme is the most difficult since it releases a lot of sphingomyelin into the body at once. We know Joseph does not have a lot of time and waiting for this drug to go through years of testing seems crazy (it will be over 3 years between phase 1 and phase 2 start dates!!!). We hope Genzyme reconsiders our request allowing severe and desperate patients with no other options access to this drug as soon as possible.

Pectin, Zinc, and Calcium Channel Blockers
There is some evidence that compounds like pectin, zinc, and calcium channel blockers  may remove significant amounts of sphingolmyelin from cells. Such approaches  are already approved drugs or simply supplements. A friend and parent of a Niemann-Pick type A/B 3 year old girl has researched these and other possible approaches.  We are currently looking into setting-up a Virtual BioTech to test these approaches similar to what parents have done in the Niemann Pick Type C disease community.  We would like to see if there is interest with other NPA or NPB parents in setting-up a Virtual BioTech funded mostly by private donations.  This is one of our only options at this point to try and save Joseph’s life and other children afflicted with this rare disease.  Please contact our family if you are interested.

Jim Colton

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