Research study is open to participants worldwide to advance understanding and treatments for TBRS, a mutation of DNMT3A, causing overgrowth, autism, intellectual disabilities, orthopedic concerns, cardiac issues, and a variety of other health and developmental concerns.
Stanfordville, New York, September 21 — Tatton Brown Rahman Syndrome Community and the National Organization for Rare Disorders, Inc. today launched the largest-ever study to research Tatton Brown Rahman Syndrome, a mutation of DNMT3A, that causes overgrowth, autism, intellectual disabilities, orthopedic concerns, cardiac issues, and a variety of other health and developmental symptoms. TBRS currently has no cure.
The new study, Tatton Brown Rahman Syndrome Community Patient Registry, creates a platform for patients around the world to share information about TBRS. Its purpose is to build an international resource to be used by scientists in future research.
“We are so excited to meaningfully contribute to the understanding and possible treatment of TBRS.” Jill Kiernan, Executive Director, TBRS Community.
To help drive awareness and participation, Tatton Brown Rahman Syndrome Community will reach out to diagnosed families and researchers.
“Our goal is to enroll as many patients, or their parents or legal guardians, as possible,” said Kiernan. “The success of the registry is dependent upon community participation.”
Tatton Brown Rahman Syndrome Community Registry is a natural history study that consists of electronic surveys to collect information about the patient experience and disease progression. Patients, or their caregivers or guardians, can enter information from anywhere in the world. The data is made anonymous and stored securely in an online portal called a registry. Tatton Brown Rahman Syndrome Community may share the data with individuals or institutions conducting research or clinical trials, as approved by the study’s governing board that includes scientists, doctors and patient advocates.
Tatton Brown Rahman Syndrome Community is launching the study in collaboration with the National Organization for Rare Disorders, Inc. (NORD), an independent charity that built its natural history study platform as part of its mission to help identify and treat all 7,000 rare diseases. Tatton Brown Rahman Syndrome Community is a member of NORD, and the organizations work together to eliminate the challenges that rare disease patients face.
“Patient-powered registries are changing the landscape of rare disease research,” said Stephanie Christopher, NORD’s Associate Director of Research. “By building strong partnerships within the community and with leading scientific experts, NORD’s Registry Program is well-positioned to address knowledge gaps and accelerate the development of discoveries that save lives. We are so pleased to welcome Tatton Brown Rahman Syndrome Community, as a partner in our IAMRARE® Registry Community!”
Tatton Brown Rahman Syndrome is a rare genetic disorder that has currently been diagnosed in only a few hundred people.
For more information, visit tbrsregistry.iamrare.org.
###
About Tatton Brown Rahman Syndrome Community
The Tatton Brown Rahman Syndrome Community aims to support all families affected by TBRS and advance research toward interventions.
Goals:
- To create a comforting, inclusive community for diagnosed individuals and their families to connect, support each other, and share information.
- To coordinate and support research on this newly identified, rare syndrome and identify treatments.
- To support research and education efforts for this newly identified, rare syndrome.
- To educate the greater community and raise awareness of TBRS.
- To manage a global patient registry for individuals diagnosed with TBRS.
About National Organization for Rare Disorders, Inc. (NORD®)
The National Organization for Rare Disorders, Inc. (NORD®) is the leading independent advocacy organization representing the approximately 25-30 million Americans affected by a rare disease. NORD is committed to the identification, treatment, and cure of the more than 7,000 rare diseases, of which approximately 90 percent are still without an FDA-approved treatment or therapy.
