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Rare Diseases: Gene Therapy Developments #6

July 22, 2013

This is the sixth in a series of Blog Posts on the topic of recent gene therapy developments in the rare disease space.

I – Audentes Therapeutics

Audentes Therapeutics is a San Francisco-based biotechnology company founded in November 2012. The company develops new treatments for rare muscle diseases through the use of Adeno-Associated Virus (AAV) gene therapy technology.  According to the company’s website:

“AAV is a small virus that is common in humans but is not known to cause disease. AAV has been studied extensively and has been proven to be a leading candidate as a vector for human gene therapy. Encouraging safety and efficacy results have been published using AAV for hundreds of preclinical and clinical studies. Importantly, available data suggest that gene therapy using AAV can lead to long-term gene expression, which should translate to a long-term treatment effect for patients, even after just a single administration.”

On July 18, 2013, Audentes Therapeutics announces that the company raises $30 million in Series A financing, which will allow the company to further advance two lead rare disease programs based on AAV gene therapy technology:

•   AT001 for X-linked Myotubular Myopathy (XLMTM)
•   AT002 for Pompe Disease.

XLMTM is a rare, inherited disorder that results in muscle weakness and respiratory impairment caused by mutations in the MTM1 gene, that encodes an enzyme call myotubalarin. Myotubularin is thought to be involved in the development and maintenance of muscle cells. XLMTM affects about 1/50,000 newborn males worldwide.

Pompe Disease is a rare, inherited disorder that results in progressive muscle weakness and respiratory impairment due to mutations in a gene that encodes an enzyme – acid alpha-glucosidase (GAA), which is used to break down glycogen. The disease affects about 1/40,000 births.

II – Sangamo Biosciences  And Down Syndrome

Children with Down Syndrome (DS) are born with an extra copy of chromosome 21. Scientists have recently shown that the extra chromosome that causes the condition can be “switched off”. About 6,000 babies are born every year with DS in the US.

Sangamo BioSciences announces on July 17, 2013, the publication of an article, “Translating Dosage Compensation to Trisomy 21” in the journal Nature. The article is the first demonstration of the inactivation of the extra chromosome responsible for DS. Sangamo BioSciences’ Zinc Finger DNA-binding Protein (ZFP) technology inserts a gene that permanently “silences” the extra copy of chromosome 21, which is the root cause of DS.

Please Note: “Spinning DNA” By USDA [Public domain] | Wikimedia Commons.

Copyright © 2012-2013, Orphan Druganaut Blog. All rights reserved.

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