The first clinical trial of gene therapy in myotubular myopathy, conducted by the biotechnology company Audentes, began Thursday, September 21, in the United States.
The first patient was treated on September 21st, just 8 years after the first proof of concept in the mouse model, obtained by Ana Buj Bello’s team at Genethon. The gene therapy product AT132, combining AAV8 and the myotubularin gene, was designed by Genethon which conducted all pre-clinical phases successfully. The phase I / II trial consists in intravenous injection of an AAV8 vector containing a functional copy of the MTM1 gene coding for myotubularin, a defective protein in this pathology.
“This is an exceptional moment and a milestone for me; I have been working on this project at Genethon for 8 years. I deeply hope that the results obtained in the context of preclinical studies are also positive for the patients”, says Ana Buj-Bello, researcher at Genethon, author of preclinical work.
“The state-of-the-art technology used in this trial was developed as part of an exceptional collaborative effort between our Genethon laboratory and US teams. It is the fruit of a long-term effort. Candidate drug treatment initiated] at Genethon by Ana Buj-Bello and her team, is now administered to a first patient, “said Frederic Révah, CEO of Genethon.
As part of its therapeutic development projects for myotubular myopathy, and more recently, promising results from studies of the same treatment approach in a naturally‐occurring dog model of XLMTM (Childers et al., Science Translational Medicine, 22 January 2014 6:220ra10), Genethon started collaborating with Audentes Therapeutics, Inc. (biotechnology company dedicated to the development of innovative treatments for rare muscle diseases).
We have entered into an agreement to develop AT001 for the treatment of X‐Linked Myotubular Myopathy (XLMTM), a rare, inherited disorder characterized by severe muscle weakness and respiratory impairment.
AT001 is a novel drug candidate based on adeno‐associated virus (AAV) gene therapy technology.
“Our agreement with Genethon is a significant step forward towards the development of a treatment for patients with this serious, rare disease,” said Matthew R. Patterson, President and CEO of Audentes. “The combination of Genethon’s expertise in the manufacturing and development of gene therapy products and Audentes’ world‐class orphan drug development team will allow us to rapidly advance this program.”
Sarepta Therapeutics signed a collaboration with Genethon (In June 2017)
Under the terms of the research collaboration, Sarepta and Genethon will jointly develop treatments for DMD. Genethon’s micro-dystrophin gene therapy approach, which can target the majority of boys with DMD, has demonstrated robust gene expression in a large GRMD model. Moreover, data show for the first time a systemic therapeutic effect in DMD dogs using a rAAV2/8 micro-dystrophin gene therapy approach without immunosuppressive treatment.
- Read the press release
- The results were published in the July 25, 2017 online issue of Nature Communications.
- Click the video below for more information
Spark Therapeutics conclut un accord avec Généthon
Spark Therapeutics, une société de thérapie génique entièrement intégrée dédiée à la lutte contre l’inévitabilité des maladies génétiques, a annoncé aujourd’hui avoir conclu un accord de licence avec Généthon, pour le développement et la commercialisation d’une thérapie génique virale adéno-associée (AAV) ciblant le foie, pour traiter une maladie génétique rare.