Since Reverse Rett was founded in 2010, we’ve delivered over £6 million in quarterly payments to international Rett syndrome and MECP2 duplication research through our partnership with the US based, Rett Syndrome Research Trust (RSRT).
RSRT are responsible for peer review and monitoring of Rett and MECP2 Duplication projects. These projects primarily aim to transform the lives of children and adults with these disorders.
The focus of our UK clinical work is to ensure that as treatments and a cure for Rett Syndrome become viable, they are accessible to patients in the UK.
CPMRS is a Rett Syndrome clinical research and treatment centre providing holistic care for affected children and adults and generating critical research outputs at the same time.
The team are the first in the world to have developed a digital monitoring platform which tracks patients’ symptoms on an ongoing basis over time.
The learning from this has already enabled the research team to publish three papers and critically, to identify physiological outcome measures which could be used to measure efficacy in future human clinical trials.
To participate in CPMRS digital monitoring, or to obtain a referral to the CPMRS , please find more information here.
Rett has already been reversed in the lab, but before it can be replicated in people, researchers need to be sure that therapies are safe and effective. Too much MeCP2 protein can be as bad as too little; the level needs to be ‘just right.’ For many years we have funded work of the Gene Therapy Consortium at RSRT which led to the development of the AVXS-201 Rett clinical trial protocol by Novartis Gene Therapies. Since 2017, we have largely funded second generation gene therapy work at the Cobb lab at the University of Edinburgh.
While traditional drug approaches will likely be restricted to correcting specific aspects of what goes wrong in Rett, it is conceivable that Gene Therapy can correct the cause of Rett at it’s very source and thus provide a profound recovery of function.”
Dr Stuart Cobb, Simons Fellow and Reader in Neuroscience at the Patrick Wild Centre and Centre for Discovery Brain Sciences, University of Edinburgh.
We have a clear strategy to translate work from the laboratory to reach Rett patients both in the UK and across the world. The graphic below shows how it all fits together, and how we’re dedicated to removing barriers that could prevent cures reaching those who need them.