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Rare Diseases: Gene Therapy Developments #5

July 4, 2013

This is a fifth in a series of Blog Posts on the topic of gene therapy developments for rare diseases. Gene therapy for rare genetic diseases is big news in biotechnology. Biotechnology companies that develop and commercialize gene therapy is a rapidly growing field of medicine, especially for rare diseases. Here are a few recent gene therapy developments in the rare disease space.

I – Universitat Autònoma de Barcelona And Esteve

Per an online July 2, 2013, article from, a single session of a gene therapy, developed by the Universitat Autònoma de Barcelona (UAB) and the pharmaceutical company Esteve, cures the rare disease, Sanfilippo Type Syndrome A (Mucopolysaccharidosis Type IIIA or MPS IIIA) in animal models.

MPS IIIA is an inherited disease caused by the lack of an enzyme called N-Sulfoglucosamine Sulfohydrolase, which is required for the break down of a substance in the body called heparin sulphate. As a result of not having the capability to break down heparin sulphate, there is a gradual build up the substance in the cells of the body, particularly in the brain, resulting in a range of symptoms – learning disabilities and behavioural  problems. MPS IIIA is usually diagnosed in children – life expectancy is between 10 and 20 years old. MPS IIIA affects 1-9/100,000 children.

The gene therapy treatment involves one surgical intervention in which an adeno-associated viral vector is injected into the liquid surrounding the spinal cord and brain. As a result, the virus genetically modifies cells of the spinal cord and the brain so that sulfamidase is produced. Sulfamidase then spreads to other parts of the body, where it continues to induce production of the enzyme.

“Once the enzyme’s activity is restored, glycosaminoglican levels return to normal for life, their accumulation in cells disappears, along with the neuroinflammation and dysfunctions of the brain and other affected organs, and the animal’s behaviour and its life expectancy return to normal …”

The study is published in the online edition of The Journal of Clinical Investigation. The full text of the journal article is available :

Haurigot V, Marcó S, et al. Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy. Journal of Clinical Investigation, 2013; DOI: 10.1172/JCI66778.

II – Lysogene

Another example of recent developments of gene therapy for MPS IIIA is the biotechnology company Lysogene, specializing in gene therapy targeting severe genetic pathologies of the central nervous system in children. Lysogene is founded in 2009 by Karen Aiach. The company announces in May 2013, that its lead gene therapy product SAF-301, for the treatment of MPS IIIA, receives FDA Orphan Drug Designation (ODD) in May 2013. In September 2010, the European Commission grants SAF-301 orphan designation for the same indication. SAF-301 is an adeno-associated viral vector serotype rh.10 carrying the human SGSH and SUMF1 cDNAs. It is currently under investigation in a Phase I/II clinical trial (NCT01474343) conducted in France. This is an “ … open-label, single arm, monocentric, Phase I/II clinical study …. with direct injection of the investigational medicinal product SAF-301 to both sides of the brain …”.

Please Note: “Spinning DNA” By USDA ([1]) [Public domain] | Wikimedia Commons.

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

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