RSRT are responsible for peer review and monitoring of Rett and MECP2 Duplication projects. Working together, we aim to fund projects that will 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. As well as funding laboratory and clinical research, we’re working with UK trial sites and industry to support two current UK clinical trials.
Our current research funding has two main goals: making gene therapies safe and effective and developing a personalised approach to treating the disorder.
Rett has already been reversed in the lab, but before it can be replicated in people we need to make sure the therapies are safe and effective. Too much MeCP2 protein can be as bad as too little; the level needs to be ‘just right.’ Our first research strand is funding the work of Dr Stuart Cobb, who aims to control the amount of MeCP2 delivered by gene therapies very precisely. His Edinburgh team is using a range of cutting edge technologies: from ‘big data’ computer science, to gene manipulation and design control mechanisms that allow healthy MeCP2 to be delivered to Rett patients without damaging side-effects. Work which we have previously supported through RSRT’s Gene Therapy Consortium, led to development of Rett clinical trial protocol by AveXis, a Novartis company. Find out more about UK based gene therapy work on the Cobb lab’s website here.
Since 2017 we have been working with Professor Paramala Santosh’s team at King’s College London to support the implementation of the first UK clinical trials. The first trial, for Sarizotan, aimed at treating breathing irregularities, is now near completion with results expected in late
2019. Our partnership with Professor Santosh’s team continues as we work together on further trials, as well as on-going work to map symptoms over the long-term, enabling earlier diagnosis and intervention, which will greatly improve quality of life. A second clinical trial, starting in 2019 at sites in Liverpool and London (including King’s), will aim to reduce symptom severity and focus on global improvements in Rett patients.
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.