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Gene Therapy And Rare Diseases: In The News #2

May 13, 2015



This is the 2nd in a series of Blog Posts on the topic of recent news developments in gene therapy and rare diseases.

The following gene therapies will be reviewed in this Blog Post:

•   Abeona Therapeutics and Sanfilippo Syndromes (MPS IIIA & MPS IIIB)

•   Fibrocell Science and Recessive Dystrophic Epidermolysis Bullosa (RDEB).

I – Abeona Therapeutics and Sanfilippo Syndromes

PlasmaTech Biopharmaceuticals, a Dallas-based biopharmaceutical company focusing on protein biologic therapies and oncology supportive care products, announces May 6th , that the company has an agreement to acquire Abeona Therapeutics. Per the May 6th Press Release:

“The Board of Directors of PlasmaTech Biopharmaceuticals and the Managers of Abeona have unanimously approved the transaction. The transaction is expected to close in the second quarter of 2015, subject to customary closing conditions.”

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, have been collaborating to develop 2 gene therapy products, ABX-101 and ABX-102, for children with SF Type B (MPS IIIB) and SF Type A (MPS IIIA). Both gene therapies deliver the therapeutic product to the central nervous system with the aim of reversing the effects of the genetic errors that cause SF. Two Phase I/II clinical trials for ABX-101 (MPS IIIB) and ABX-102 (MPS IIIA) are to expected to start in mid-2015.

In April 2014, the FDA grants Abeona Therapeutics’ two gene therapies for Sanfilippo Syndrome Types A and B, Orphan Drug Designation (ODD):

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


II – Fibrocell Science and Recessive Dystrophic Epidermolysis Bullosa

Fibrocell Science (Exton, Pennsylvania) is a biotechnology company that develops therapeutics using a person’s own cells to target localized treatment of rare and serious skin and connective tissue diseases – personalized medicine. The company’s platform involves human autologous fibroblast cell therapy that extracts a patient’s fibroblast cells, and then a gene is “transduced into an autologous fibroblast cell and administered into the patient to enable the production of the desired protein(s).”

Fibrocell Science announces May 12th, that the FDA grants a rare pediatric disease designation for the company’s gene therapy drug candidate, FCX-007, for the treatment of RDEB. In June 2014, FCX-007 receives FDA ODD for Dystrophic Epidermolysis Bullosa (DEB), which includes RDEB. The drug is currently in late stage pre-clinical development with an IND filing targeted for mid-2015.

Epidermolysis Bullosa (EB) is a group of genetic conditions causing one’s skin to be very delicate and to blister easily. A minor injury, scratching, or rubbing results in skin blisters and skin erosions. DEB is one of the major forms of EB and can vary from mild to severe. In the United States, there are approximately 2,800 – 5,600 patients. There is no treatment or cure for DEB.

FDA ODD Designation Database Record

Generic Name: Autologous genetically modified human dermal fibroblasts
Trade Name: n/a
Date Designated: 06-10-2014
Orphan Designation: Treatment of dystrophic epidermolysis bullosa
Orphan Designation Status: Designated
FDA Orphan Approval Status: Not FDA Approved for Orphan Indication
Sponsor: Fibrocell Technologies, Inc. 405 Eagleview Blvd Exton, PA 19341


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

Copyright © 2012-2015, Orphan Druganaut Blog. All rights reserved.

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