A Rare Lysosomal Storage Disease

Potential Breahthrough in Niemann-Pick Type C Research

Potential Breahthrough in Niemann-Pick Type C Research

One thing that I’ve personally learned is not to get excited about many things when it comes to research for Niemann-Pick Type C. The job of PR firms and Press Releases are to generate buzz, hype, excitement, and positive feelings. Sometimes there are a lot of finite details that cannot be written in a 500 word document. It would be like your best friend calling you up saying that they wanted to pop by to show you their new business only to find out it is a MLM and he/she has been involved for 60 days without producing a dime. Oh and you need to purchase $1000 worth of product to join. Show me the concrete and I might consider some of my feelings.

Niemann-Pick Type C is essentially a generic flaw keeping lipids trapped in the cell and prevents cells from using the lipids appropriately. The destruction of brian cells, which is the most crucial area, typically kills the affected individuals by their teenage years. NPC strikes approximately one in every 150,000 births. NPC is a genetic inherited neurological disorder that involves the lack of cholesterol metabolism within the cells.

A recent claim published by Olaf Wiest and Paul Helquist of the Univeristy of Norte Damn and Frederick Maxfield of Cornell University says that a histone deacetylase inhibitor (HDAC) corrects the damage done by NPC and allows the previous diseased cells to function normally.

This obviously would appear like wonderful news except we have to remember not to jump to premature conclusions drawn from this press release. This whole disease and finding a suitable treatment is so complicated. There have been many times in the past that something in the lab has shown to cure NPC but only to later show that it wasn’t feasible in actual humans or animal studies.

One of the leading Niemann-Pick Type C experts Marc C. Patterson, M.D., Chair of the Division of Child and Adolescent Neurology at Mayo Clinic, also a member of the NNPDF’s SAB, urged caution on premature assumptions:

The work was done in cultured fibroblasts, so one should be very cautious about extrapolating these data to animals or humans.  Moreover, the work was done in cells expressing one or two I1061T NPC1 mutations, and may not be relevant to other mutations; it was not effective in an NPC2 mutant cell line.  Of note, the late Dick Pagano showed dramatic reversal of trafficking abnormalities and filipin staining in NPC fibroblasts in which rab 7 and 9 were overexpressed, but much more modest results in transgenic mice with NPC1 mutations and rab overexpression.

Mouse studies could certainly be justified, but it would be premature to assume that this approach will be applicable in humans with NPC.

If there was ever a time to have a child or loved one with Niemann-Pick Type C, it would be in our current timeline. Research is making head way but that head way has to be weighed by the fact that in research time it might be moving fast but to parents that timeline will never be fast enough to help their dying children now.

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Photo used under Creative Commons from jepoirrier.

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