Advancements Continue in Development of Potential Niemann-Pick Disease Type B Therapy

Genzyme Corporation recently announced several advances in the development of the investigational compound rhASM as a treatment for Niemann-Pick Disease Type B, a serious and rare inherited disorder for which there is currently no cure. Niemann-Pick Disease types A and B (NPD A and NPD B) are also referred to as Acid Sphingomyelinase Deficiency (ASMD).

Results from Genzyme’s completed Phase 1b clinical trial were presented at the 10th Annual WORLD Symposium by Melissa Wasserstein, MD, Medical Director of the International Center for Types A and B Niemann Pick Disease at the Icahn School of Medicine at Mount Sinai, a clinical trial partner.

The study, “An open-label, multicenter, ascending-repeat-dose study of the tolerability and safety of recombinant human acid sphingomyelinase (rhASM) in patients with ASM deficiency (ASMD),” evaluated the tolerability and safety of rhASM in five adult patients. A Genzyme press release discusses the details and indicates that “All five patients are participating in the Long-Term Study and will continue on therapy.” Further, according to the press release, “Genzyme plans to begin enrolling patients in a Phase 2/3 program for Niemann-Pick Type B in 2015.”

The compound rhASM was developed by Edward H. Schuchman, PhD, the Genetic Disease Foundation Francis Crick Professor and Vice Chair for Research at the Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai. Dr. Schuchman and his team created the first animal model for NPD and used it to clone the gene linked to NPD, develop the compound and complete proof-of-concept studies.

More information about NPD can also be found at this website and the National Niemann-Pick Disease Foundation website.