$1,600,000 AWARDED

Gene Therapy Consortium 1.0

Rett Syndrome, as awful as the symptoms may be, provides us with several enormous advantages. First we know the cause: mutations in a single gene: MECP2. Second, Rett is not degenerative – brain cells don’t die. Third, work from RSRT trustee, Adrian Bird, suggests that the symptoms of Rett need not be permanent. These three facts make gene therapy an attractive therapeutic strategy.

In 2014 we launched a bold international collaboration of two gene therapy labs, Brian Kaspar and Steven Gray, and two MECP2 labs, Gail Mandel and Stuart Cobb. Together these labs brought together all the necessary skills and experience to determine if gene therapy is a viable therapeutic.)


Meet the Consortium Members





The Consortium worked through numerous challenges involving vector optimization (the Trojan horse that delivers the gene into a cell), gene construct optimization (what you package into the vector that regulates MeCP2 protein production), gene therapy dosage, and the best route to deliver it.

The data generated by the Consortium exceeded our expectations. They were able to develop a gene therapy product candidate with impressive efficacy, safety and delivery characteristics. Importantly, the magnitude of improvement in the mouse models of Rett is much greater than that of any drug tested to date and suggests that significant benefit may be achieved in people.

Based on the Consortium data AveXis committed to advancing a gene therapy candidate into clinical trials, and is on track to launch the first trial in 2019.

Without RSRT championing gene therapy, we would not be where we are today. Bringing our expertise and focus on rare monogenic diseases, we are excited by the possibility that gene therapy may address the needs of individuals with Rett Syndrome.

Brian Kaspar

Chief Scientific Officer, AveXis

Technological advances in gene therapy are happening quickly with more effective vectors being discovered that can carry larger DNA cargos and target a greater percentage of brain cells. While we anticipate encouraging results with our first clinical trial there will likely be room for improvement. We have therefore recently awarded continued funding to the Gene Therapy Consortium 2.0 to support second-generation gene therapy programs to leverage all technological advances.

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