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. We are currently funding research with two 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. Partly because of the work which we have supported through RSRT’s Gene Therapy Consortium, the world’s first gene therapy trial in Rett syndrome is due to begin in the USA in 2019. Find out more on the Cobb lab’s website here.
In our second research strand, the goal is to understand each patient’s symptoms in much more detail, paving the way for new treatments and developing clinical capacity needed to ultimately cure the condition. This will make sure that when new treatments and cures become available, we have experience of treating Rett patients and can address the challenges it poses. We’re working with Professor Paramala Santosh’s team at King’s College London on the first UK clinical trial of a treatment for Rett patients’ breathing difficulties. Our aim is to build on this partnership, to map symptoms over the long-term, enabling earlier diagnosis and intervention, which will greatly improve quality of life.
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.