One of RSRT’s strengths is identifying critical research gaps and filling them. The following studies have been initiated by RSRT and are being conducted with academic and industry partners with the expectation that they will accelerate drug development.
Rett Syndrome Global Registry
The Rett Syndrome Global Registry is a parent/caregiver-driven initiative that taps into families valuable day-to-day experience with Rett, provides new and unique tools to manage their child’s needs, while advancing research and therapeutic development.
Become a Global Registry Pioneer to get early access to the registry, where you can share information about your loved one and see aggregated data about the entire Rett community.
Boston Children’s Hospital is running a study, funded by RSRT, on two biosensors to directly measure physiological symptoms — such as heart rate, breathing, movement, and sleep — in Rett syndrome. The purpose of the study is to identify objective measures for symptom improvement in clinical trials. Every biopharmaceutical company RSRT engages with expresses great interest in using biosensor data in clinical trials, and these measurements are without a doubt the future of trial data collection. This study is currently enrolling a small number of participants.
Digital Natural History Study
RSRT is partnering with a technology company, Ciitizen, to collect, digitize, and analyze the medical records of people with Rett syndrome, with the goal of creating a digital natural history study. In order to test and develop potential Rett therapies, drug companies need longitudinal data about the disease, including symptoms and medications, and digital natural history studies provide this longitudinal data. If we had to collect this information starting today, it would take years to have enough to share with drug developers. But years-worth of data already exists in our loved ones’ medical records. The data collected from medical records complements the data in the Global Registry and can also be utilized by biopharmaceutical companies researching a cure for Rett to speed up progress. Enrollment with Ciitizen is open.
Communication is one of the most important symptoms of the disorder that families would like to see improved.Currently, there is no comprehensive tool to assess communication among individuals with Rett Syndrome. The Observer-Reported Communication Ability (ORCA) is a communication-focused assessment tool that is currently being used in clinical trials and natural history studies for individuals with Angelman syndrome. RSRT is partnering with the developers of the ORCA at the Center for Health Measurement at Duke University School of Medicine to adapt and validate the ORCA for Rett, so that it can be used in clinical trials.