Sanfilippo Syndrome: FDA Orphan Designations For Gene Therapy

Abeona Therapeutics, a Cleveland-based biotechnology start-up, is created in March 2013 as a spinoff of Nationwide Children’s Hospital, with the goal of developing therapies for patients with the rare Lysosomal Storage Disorder (LSD), Sanfilippo (SF) Syndrome or Mucopolysaccharidosis III (MPS III). Abeona in Roman Mythology is the Goddess of Departures. She protects children as they step away from home for the first time, keeping them safe as they venture into the world. Her name comes from the Latin verb abeo, “to depart, go away, or go forth”.

SF is a genetic metabolism disorder that prohibits the proper breakdown of the body’s sugar molecules. There are 4 types of MPS III (MPS III A, MPS III B, MPS III C, and MPS III D), each with a deficiency in one of four lysosomal enzymes. The disease first affects the central nervous system, causing severe brain damage, and typically results in hearing loss, vision loss, organ damage, bone deformities, and eventual death. There is currently no approved treatment for SF.

Abeona Therapeutics, who in partnership with scientists at Nationwide Children’s Hospital, and with financial support from multiple international patient advocacy groups, are collaborating to develop 2 gene therapy products, ABX-A and ABX-B, for children with SF Types A and B. Both products deliver the therapeutic product to the central nervous system with the aim of reversing the effects of the genetic errors that cause SF.

No gene therapy has ever been approved for sale in the United States. In Europe, the EMA (European Medicines Agency), has given regulatory approval to UniQure, to sell its gene therapy, Glybera, for the treatment of the rare disease, Lipoprotein Lipase Deficiency (LPLD).

Just this week, the FDA grants Abeona Therapeutics’ two gene therapies for Sanfilippo Syndrome Types A and B, orphan drug designation:

#	Generic Name/ODD Date	Sponsor Company	Indication
1	Recombinant AAV9 expressing human sulfoglucosamine sulfohydrolase/ 04.29.14	Abeona Therapeutics	MucopolysaccharidosisType III-A (Sanfilippo Syndrome Type A)
2	Recombinant AAV9 expressing human alpha-N-acetylglucosaminidase/ 04.30.14	Abeona Therapeutics	MucopolysaccharidosisIII-B (Sanfilippo Syndrome Type B)

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

Please Note: “DNA Repair” courtesy of Tom Ellenberger, Washington University School of Medicine in St. Louis. [Public domain] | Wikimedia Commons.

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