Rett Syndrome strikes at random in early childhood, affecting little girls almost exclusively. Most girls lose the ability to walk, talk and use their hands. Most will have difficulty breathing and eating. All are at increased risk of sudden and unexplained death. Many girls live into adulthood, requiring total, 24-hour-a-day care. There is currently no effective treatment but the disease has already been reversed in a mouse model.

The concept behind gene therapy (GT) is simple: delivery healthy copies of the MECP2 gene to compensate for the mutated ones. Recent results from RSRT’s GT Consortium have exceeded expectations, suggesting that significant benefit may be achieved in people. In 2017, biotech company, AveXis, has committed to advancing a GT candidate into human trials. Our focus is now to support the continued work of the GT Consortium as they work full speed ahead on improved second-generation GT programs.