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Rare Diseases: Gene Therapy Developments And The University of Florida

September 30, 2013

This is the eighth in a series of Blog Posts on the topic of recent gene therapy developments in the rare disease space. This Blog Post examines the University of Florida’s recent gene therapy developments for two rare diseases:

•   Hemophilia B
•   Pompe Disease.

On September 26, 2013, in the journal EMBO Molecular Medicine, a journal article is published on a gene therapy study showing promising results for Hemophilia B patients.

Some Hemophilia B patients develop an allergic reaction to the blood-clotting treatment that is required.  University of Florida (UF) researchers, using gene therapy, are able to reverse this allergic reaction and provide long-lasting treatment for the disease in an animal model. If successful in humans, gene therapy may provide Hemophilia B patients with a “much-needed therapy … also may spare them the cost and difficult treatment regimens” that they undergo.

Hemophilia B patients do not make Factor IX, which is a protein that allows the blood to clot. As a result, when a blood vessel is injured, the blood vessel is not sealed and blood continues to leak out. During gene therapy, an Adeno-Associated Virus (AAV) carries a working gene into the body to replace a faulty gene. In Hemophilia B, if gene therapy is successful, the body will start to make its own Factor IX again.

Researchers are cautious, as additional studies are needed before starting human trials, because of “dangerous side effects that could occur if the gene therapy worked without curbing the immune response”. The researchers also plan on testing this gene therapy technique in Hemophilia A and Pompe Disease. The following is the citation for the article along with the link for the PDF download of the journal article:

David M. Markusic, Brad E. Hoffman, et al. Effective Gene Therapy for Haemophilic Mice with Pathogenic Factor IX AntibodiesEMBO Molecular Medicine. 2013; DOI: 10.1002/emmm.201302859.

The University of Florida’s Powell Gene Therapy Center (PGTC) is partnering with Audentes Therapeutics, a San-Francisco-based biotechnology company, for the purpose of finding a new form of gene therapy treatment for patients with Pompe Disease. Dr. Barry Byrne, M.D., Ph.D., Director of the Powell Gene Therapy Center, says that:

“The ability to have a commercial sponsor for a scientific program allows our discoveries to be developed into real products that will help people. And that is really the goal.”    

Dr. Byrne and his team have completed successfully, safe and effective gene therapy studies in human patients with Pompe Disease, but now with the partnership with Audentes Therapeutics, will develop a more effective vector for delivering corrective genes. AAV-9, a new form of AAV, is now being used at UF for Pompe Disease. Previous studies used AAV-1, but this type of virus couldn’t penetrate the central nervous system. AAV-9 carries genes to affected muscles and organs, and also to the central nervous system.

Please Note: “Gene Therapy” National Institute of Health [Public domain] | Wikimedia Commons.

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

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