Sanfilippo Syndrome: Gene Therapy Developments
Gene therapy for rare genetic diseases continues to top the news in biotechnology. Biotechnology companies that develop and commercialize gene therapy is a rapidly growing field of medicine, especially for rare diseases. This is the tenth in a series of Blog Posts on the topic of recent business developments for gene therapy for rare diseases.
Sanfilippo (SF) Syndrome or Mucopolysaccharidosis III (MPS III) is a rare 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:
• Heparin N-sulfatase for MPS III A
• N-acetyl-alpha-D-glucoasaminidase for MPS III B
• Acetyl-CoA:alpha-glucosaminidase for MPS III C
• N-acetylglucoasamine-G-sulfate sulfatase for MPS III D.
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.
An October Orphan Druganaut Blog Post discusses how various stakeholders, Abeona Therapeutics, who in partnership with scientists at Nationwide Children’s Hospital, and with financial support from multiple patient advocacy groups, unite to develop gene therapies for SF.
I – Sanfilippo A Syndrome
REGENX Biosciences, an AAV (Adeno-Associated Virus) gene therapy company, and Lysogene, a clinical stage biotechnology company developing therapies for rare diseases, announce December 5 that both companies are entering into an agreement enabling the development and commercialization of products to treat Mucopolysaccharidosis Type III A (MPS III A or Sanfilippo Syndrome Type A) using NAV rAAVrh10 vectors.
II – Sanfilippo B Syndrome
uniQure, a Netherlands gene therapy company, announces on November 28 that a Phase I/II gene therapy clinical trial for children suffering from Sanfilippo B Syndrome enrolls its first patient in October 2013. The clinical trial is being conducted in Paris and involves :
• Institut Pasteur (trial sponsor)
• Inserm (French National Institute of Health and Medical Research)
• Vaincre les Maladies Lysosomales (VML).
The gene therapy Phase I/II clinical trial for SF Type B, or MPS III B, is based on the development of a viral vector that delivers the mutated gene for the appropriate lysosomal enzyme deficiency, to the patient’s brain cells.
“Cells incorporate the missing gene, provided by the viral vector, into their DNA thus enabling them to produce the missing enzyme. The treatment consists of several intracerebral vector deposits in several areas of the brain. It was administered to the first patient in October 2013 ….”.
Also, uniQure this past November, announces the filing of a confidential submission of a draft registration statement on Form F-1, to the US Securities and Exchange Commission (SEC), relating to a possible Initial Public Offering of its ordinary shares.
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). No gene therapy has ever been approved for sale in the United States.
Please Note: “DNA Repair” courtesy of Tom Ellenberger, Washington University School of Medicine in St. Louis. [Public domain] | Wikimedia Commons.