Rett Syndrome Research Trust launches parent-reported registry

It aims to advance the development of genetic medicines for disease

Andrea Lobo, PhD avatar

by Andrea Lobo, PhD |

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A hand holding an arm showing a DNA strand represents a genetic treatment.

The Rett Syndrome Research Trust (RSRT) has launched a global registry for parents to share their knowledge and experiences about caring for their loved ones with Rett syndrome.

Called the Rett Syndrome Global Registry, its aim is to advance the development of genetic medicines for Rett. The registry follows U.S. Food and Drug Administration regulatory requirements for clinical trials and the data gathered in it can be analyzed by pharmaceutical companies working on treatments for Rett.

“We are incredibly encouraged by the level of interest and support we’ve received from regulatory policy makers, biopharmaceutical companies, and families,” Jana von Hehn, PhD, Rett Global Registry’s chief scientific officer, director, and principal investigator, said in an RSRT press release. “We are excited to be working with companies to aid their clinical development so early in the life cycle of the Rett Global Registry.”

Rett syndrome is chiefly caused by mutations in the MECP2 gene, which provides instructions for producing the MeCP2 protein. The protein controls which genes are switched on or off, and plays a vital role in brain development and function.

Families of people with Rett are encouraged to join the Rett Global Registry to enhance the input from patients and caregivers toward developing therapies.

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What will the RSRT’s registry collect?

Data on quality of life and symptom burden will be collected, using a fully remote platform that’s accessible to families despite geographic location, access to medical facilities, or socioeconomic conditions. It’s available in nine languages so it can better define global care strategies, according to the RSRT.

“Your experience is a valuable resource that can help other families, as well as clinicians, researchers, and biopharma companies,” the registry’s webpage states. “Your information can collectively drive the development of more powerful symptom management techniques and tools, answer research questions, provide insights to create outcome measure tools, and improve clinical trials.”

To collect and manage information, the registry uses a platform called Matrix from Across Healthcare. The system ensures data integrity and confidentiality while meeting national and international regulatory requirements.

The registry’s development was guided by the RSRT research team, who collaborated with Bernhard Suter, MD, at Baylor College of Medicine and an investigator in Neurogene’s NGN-401 gene therapy trial, and with Cary Fu, MD, at Vanderbilt University, lead author on the Consensus guidelines for managing Rett. Committees of parents, clinicians, and biopharmaceutical companies also took part.

The Rett Global Registry is part of RSRT’s Combining Untapped Resources to Expedite Targeted Therapeutics (CURETT) initiative, which is made up of three studies: the SHARE study will obtain patient-reported data through the global registry; the CARE study will extract clinician-reported information from medical records; and the WEAR study will obtain objective symptom data using biosensors.

“The launch of the Rett Syndrome Global Registry represents a transformative moment in the Rett community,” said Monica Coenraads, CEO of RSRT. “By gathering invaluable parent-reported data from around the world, providing a flexible research arm to facilitate novel endpoint development, and establishing a centralized regulatory compliant infrastructure to support external control arms, we are taking a giant leap forward in expediting the development of curative therapeutics.”