TRND (Therapies for Rare and Neglected Diseases) and the NIH team met with FDA representatives on December 13th to discuss the progressive plans to bring Cyclodextrin to a clinical trial in 2012. For TRND, Niemann-Pick Type C is one of six pilot projects that were selected.
The NNPDF does a wonderful job of keeping families and people interested up to date on how things are progressing in the disease community for Niemann-Pick Type C. You can visit updates on their page here: http://www.nnpdf.org/aboutus_14.html Continue Reading
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.
In Rockville, MD on June 3-4th many of the researchers looking into different areas and avenues for Niemann-Pick Type C came together to discuss promising therapies. Although research is making progress, parents of NPC patients never feel that research is happening fast enough. That is greatly to be expected. The NPC community is making large strides in the right direction!
The National Niemann Pick Disease Foundation was very kind in putting together a recap of that meeting in a pdf format which is viewable here: Promising Therapies for Niemann-Pick Type C Disease. Continue Reading
This week the FDA has stated formally that they see promise in the use of Cyclodextrin in treating Niemann-Pick Type C (NPC) by granting its “Orphan Drug Designation”.
In January of 1983, the Orphan Drug Act (ODA) was passed into law in the United States with consistent pursuit by the National Organization for Rare Disorders. The ideal behind this is to encourage pharmaceutical companies to look into smaller markets with development of drugs for orphan diseases. Niemann-Pick Type C (NPC) certainly falls into this category (around than 500 diagnosed ever worldwide). The benchmark on how to determine an orphan disease is one that affects less than 200,000 people. Continue Reading
New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat
Authors: James E Wraith, Jackie Imrie
Published Date November 2009
James E Wraith, Jackie Imrie
Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Manchester, UK
Abstract: Niemann-Pick disease type C (NP-C) is an autosomal recessive disorder characterized by progressive neurological deterioration leading to premature death. The disease is caused by mutations in one of two genes, NPC1 or NPC2, leading to impaired intracellular lipid transport and build-up of lipids in various tissues, particularly the brain.
*This post does not reflect the views and opinions of Niemann-Pick Children’s Fund, Inc. This article is for informational purposes only. The sole credit of this article belongs to the author/website listed above.
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