Since Reverse Rett was founded in 2010, we’ve delivered over £6 million to international Rett Syndrome and MECP2 Duplication Syndrome research through our longstanding partnership with the US based Rett Syndrome Research Trust (RSRT).
RSRT are responsible for peer review and monitoring of Rett Syndrome 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.
In September 2019, Reverse Rett committed funding to the CIPP Rett Centre based at King’s College Hospital. The CIPP Rett Centre cares for complex patients with Rett Syndrome and related disorders, monitors Rett Syndrome patients nationally through the CIPP Rett Database, and conducts clinical research including clinical trials of emerging treatments.
CIPP Rett Centre 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 the CIPP Rett Database – a digital monitoring platform for Rett Syndrome which tracks patients’ symptoms on an ongoing basis over time.
The learning from this has already enabled the research team to publish eight papers, and critically to identify physiological outcome measures which could be used to measure efficacy in future human clinical trials.
Rett Syndrome 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 Reverse Rett has funded work of the Gene Therapy Consortium at RSRT which led directly to the development of a number of commercial gene therapy products projected to launch human clinical trials between 2022-2024.
In 2021, Reverse Rett funds delivered to RSRT were used to support the ongoing collaborative gene therapy project between the Bird and Cobb labs, and the CSF proteome (biomarker) project at the Cobb lab. Both these labs are based at the University of Edinburgh.
MECP2 Duplication funds were sent to the Khvorova lab at UMass Medical Centre, MT, USA.
In 2022, Reverse Rett funding delivered to RSRT will be used to support the MECP2 Reactivation collaboration between Tony Bedalov, Kyle Fink, and Shawn Liu. These labs are using CRISPR-Cas9 as an epigenome editing approach. They have already successfully activated a silenced copy of CDKL5 on the inactive X chromosome in vitro for CDKL5-deficiency disorder.
We have a clear strategy to translate work from the laboratory to reach UK children and adults with Rett Syndrome. 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.