October is National Niemann Pick Disease Awareness Month.
Today I want to highlight the research that is going toward development of cures for Niemann Pick Diseases.
There are so few children with Type A, and their life expectancy is so short that it is difficult to do much research with hopes of developing treatments or cures.
But there are at least 2 families who have helped substantially increased the knowledge and the ability of researchers. Both the Laffoon family and the Bourgeault family donated organ samples of their children, Wylder and Kaitlyn, after they died.
The Laffoon family blog, Wylder Nation, has several posts about the Wylder Research Foundation. Please read about them here and here.
From Kaitlyn's Korner:
She will be taken to Levine Children's Hospital to have small samples taken from her body to be sent up to the Niemann-Pick Disease Center at Mount Sinai School of Medicine to further research on Niemann-Pick Disease, Type A.
The most promising treatment for Type B is Enzyme Replacement Therapy. There is a Phase 2 Clinical Trial. A Phase 1 Clinical Trial has been completed.
I hope my friends with NPB will add any information they have to the comments below.
Mount Sinai Medical Center in NYC houses the International Center for Types A and B Niemann-Pick Disease.
For many years the only treatment was migulstat, a drug used to treat Gaucher's Disease. However, the drug has some significant side effects in NPC patients that are not present in those with Gaucher's. However, migulstat is not approved as an NPC treatment by the FDA.
Hopefully early next year, there will be a Phase 1 trial of cyclodextrin conducted at the NIH. At the moment, cyclodextrin is the most promising treatment. But it also has its draw backs. In order to be most effective, the cyclodextrin needs to be injected into the central nervous system (best location to ensure maximum assistance is the brain). These injections need to be completed every few weeks, which at the moment requires a hospital stay. Addi and Cassi Hempel have been on cyclodextrin for several years with significant noticeable improvements.
So as you can seem there no good treatments available yet, and research is still a long way from finding a manageable treatment or (ideally) a cure. So again, I ask you to please donate to the NNPDF. You can use the button on the right side of the blog. Every year, the NNPDF awards grants to researchers who have promising research into all the Types. Your donation will be going to help fund that research.