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Lysosomal Storage Disorders: Advocacy Group Receives FDA Orphan Designations

February 5, 2014

This is the second Blog Post in a series over the next week that will examine Lysosomal Storage Disorders (LSDs) in the rare disease and orphan drug space. This Blog Post presents an advocacy group that receives two FDA Orphan Drug Designations (ODDs) in 2013 for treatment of rare diseases. The chart below identifies the gene therapy that receives FDA ODD where the sponsor is a rare disease advocacy group.

Row   Num

Generic   Name

Designation   Date

Orphan   Designation


recombinant   adeno- associated virus vector   AAV2/rh8 expressing human B-hexosaminidase A   and B subunits 03-25-2013 Sandhoff Disease


recombinant   adenovirus vector AAV2/rh8   expressing human B-hexosaminidase A & B   subunits 03-25-2013 Tay-Sachs Disease


**   “Generic Name” Column Link = Is the FDA Orphan Drug Product Designation Database Record.

The National Tay-Sachs and Allied Diseases Association (NTSAD) announces in June 2013 that the FDA grants the organization two ODDs (March 2013) for a novel gene therapy for two rare diseases:

•   Tay-Sachs
•   Sandhoff Disease.

The gene therapy in development corrects an enzyme deficiency that causes the progressive neurodegeneration in both diseases. The experimental gene therapy uses Adeno-Associated Virus (AAV)-based gene therapy. Both diseases are Lysosomal Storage Diseases (LSDs) – a group of genetically inherited disorders, characterized by the deficiency of an enzyme that prevents the proper breakdown of undigested material inside cells. This results in accumulation of substrate in tissues and organs of the body, resulting in progressive deterioration. No cure currently exists for Tay-Sachs and Sandhoff Diseases.

NTSAD is one of the oldest patient advocacy groups in the US, founded more than 50 years ago by parents whose children were affected by Tay-Sachs and other LSDs. The organization supports research through the Research Initiative and other collaborative programs. NTSAD “pioneered the development of community education about carrier screening programs for Tay-Sachs and related diseases, which became models for all genetic diseases.”

NTSAD won one of Genzyme’s PAL (Patient Advocacy Leadership) Awards for 2013.

Please Note: “First Pigment Analysis (5893349712)” by NASA ICE (First Pigment Analysis  Uploaded by russavia) [CC-BY-2.0] | Wikimedia Commons.

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