Are there any commercially available gene therapy products?
Gene therapy is currently available only in a research setting. The FDA has not yet approved any gene therapy products for sale in the US. Multiple approvals look likely in the near future for severe combined immune deficiency (SCID), inherited retinal disease, hemophilia, spinal muscular atrophy and others. Several gene therapy products have been approved outside of the US.
We don’t know yet. Information will be shared with families as soon as it’s possible to do so.
Like all clinical trials it will be up to the clinical site to choose patients based on the criteria for inclusion in the clinical trial. It is still early in the process of protocol development and the selection criteria have not been determined yet. Once the protocol is written it will be submitted to the FDA along with a comprehensive data package. The FDA may accept the protocol as is or may ask for changes.
Yes, there are always risks involved in clinical trials and especially trials that are testing a new therapeutic for the first time.
Scientific consensus is that the vector used for our gene therapy program, the adeno-associated virus (AAV), does not pose a risk for cancer. There are various other vectors that have been used to deliver a gene therapy and some of these can cause tumors. We therefore chose not to use those vectors for our gene therapy program.
Since gene therapy introduces additional copies of the MECP2 gene and therefore more MeCP2 protein, inclusion criteria for the trial will require having an MECP2 alteration.
It’s too early to know for sure. It is likely that treatment will be available in a select number of sites to start, and then expanded to additional sites as the medical community gains more experience with gene therapy.
There is every expectation that gene therapy will become commercially available in the US, Europe and other parts of the world.
The magnitude of efficacy in the mouse models of Rett Syndrome with this gene therapy product is greater than that of any drug in development. Although we are optimistic that significant benefit will be achieved, it is not possible to predict how effective this first gene therapy product will be – this can only be established through testing in humans.
The ultimate goal of gene therapy is to fully reverse all symptoms. We believe this is achievable and are fully committed to our gene therapy programs. There is a broad, world-wide, scientific research effort focused on improving efficacy and safety of gene therapy. New knowledge and insights are being generated at a rapid pace. In parallel to advancing this lead program, we continue to monitor progress and evaluate opportunities to incorporate new insights into an improved second-generation gene therapy product.
Intuition suggests that the earlier that treatment is started, the better. However, the animal data in Rett suggests that treatment of adult animals provides significant benefit. How well the animal results translate to humans remains to be established. Regardless, we believe that intensive therapies and rehabilitation will maximize the effects of gene therapy.
We have established that it is possible to restore MeCP2 by targeting RNA and that it is possible to reactivate the non-mutated MECP2 on the inactive X chromosome. We are in the process of producing and testing a modified protein that crosses the blood brain barrier. Current efforts are focused on improving efficiency, specificity, and optimizing each curative approach for use in humans with Rett Syndrome.
Our goal is to make gene therapy available to every person in the world with Rett Syndrome. We intend to promote development worldwide and will do so as rapidly as possible.
We share the same urgency that families in the US and around the world feel when it comes to curing Rett as fast as possible. Roadmap to a Cure is our 3-year research plan and not the timeline to a cure.
Anyone can raise funds for Roadmap to a Cure. You don’t need to have wealthy friends or family. There are lots of ways to effectively fundraise—start an event, do crowdfunding at www.RettGive.org or get involved with an existing event. Contact Tim Freeman, RSRT’s chief development officer who is also the father of a daughter with Rett, at firstname.lastname@example.org or 609.309.5676 and he can brainstorm with you.