Ataxie de Friedreich, La recherche progresse (English translation)

Translation courtesy of John Spencer. Thanks to Alex Bernard for authorizing publish the translation of the full text.

"Finding money for research is always a problem, "says researcher, Dr. Tremblay

Friedreich's ataxia is caused by a mutation in a related to the production of a protein called frataxin gene. Patients with this disease produce less frataxin which causes cell death. Normally, cells that die are replaced, except in the brain and heart. The disease therefore causes neural and cardiac symptoms in those who are affected.

The solution is to increase frataxin in patients and to get there, we evaluate different avenues, either by injecting frataxin in patients or by different techniques, including gene therapy by stimulating the production of the protein.

Dr. Tremblay came to interesting results, thanks to "Tale" proteins he got increases of 2 to 3 times the expression of frataxin with this approach. Patent applications have been filed on this technology.

"The great difficulty in the development of therapy is that it may be necessary to go into clinical trials. This can cost $ 1 to 2 million dollars for a single trial on a dozen patients. In this type of research, which we are always limited by budgets," says Dr. Tremblay.

When he does tests on animals, it can produce its own virus that costs a few thousand dollars. Conversely, when it is tested on humans should viruses highest quality are produced by only a handful of laboratories around the world.

Funding is difficult to find because the pharmaceutical companies have less interest in treating of orphan diseases and as a result, government agencies fund some research.

"I created an international consortium to promote gene therapy. One of our primary goals is to lobby governments to increase the amount of money spent on research for gene therapy because perhaps it could help develop treatments for many orphan diseases.

The researcher points out that the development of gene therapy is not limited only to orphan diseases, but it can contribute to treatments for many other afflictions, including cancer.

This therapy involves injecting a virus whose center core was replaced by part of genes. If we develop a virus to treat Friedreich's ataxia, it can also be used to treat diseases of vision, some hearing or lung disorders.

"I am very optimistic that we can develop treatments for Friedreich's ataxia. I hope to go to trial within 2 to 3 years, "expressed Dr. Tremblay. It still needs more work on his animal models to obtain the necessary approvals from Health Canada before he can move to clinical trials. But even with these authorizations, the research is dependent on the ability of Dr. Tremblay to find money.

Source:

Ataxie de Friedreich, La recherche progresse . Journal de Chambly, Par Alex Bernard, Mardi 2 juillet 2013 16:20:02 HAE

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Ataxie de Friedreich, La recherche progresse

Ataxie de Friedreich, La recherche progresse . Journal de Chambly, Par Alex Bernard, Mardi 2 juillet 2013 16:20:02 HAE

«Je suis très optimiste qu’on puisse développer des traitements pour l’ataxie de Friedreich. J’espère pouvoir aller en essai clinique d’ici 2 à 3 ans», exprime Dr Tremblay.

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July 2, 2013 — A single session of a gene therapy developed by the Universitat Autònoma de Barcelona (UAB) cures Sanfilippo Syndrome A in animal models. This syndrome is a neurodegenerative disease that affects between 1 and 9 out of every 100,000 children, and causes the death of the child on reaching adolescence.


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Keywords: Friedreich’s ataxia; frataxin; GAA repeats; molecular diagnostics; triplet-repeat primed PCR; real time PCR.

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Study Design:
Allocation: Randomized; Endpoint Classification: Efficacy Study; Intervention Model: Parallel Assignment; Masking: Double Blind (Subject, Caregiver, Investigator, Outcomes Assessor); Primary Purpose: Supportive Care

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"Interesting in vitro model to test if drugs can reach neurons, in Friedreich's ataxia it's a major handicap reach the neurons to improve the neurological symptoms"