Jan. 9, 2019
Posted by Lisa Sencen
Yesterday, a NORD Member Organization and IAMRARE™ Registry Client, KAT6A, officially launched their patient registry, KAT6A Patient Registry. NORD’s IAMRARE Registry Program was built to address the special needs of those developing treatments for rare diseases with extensive input from FDA, NIH, patients, organizations and experts in the field. We are pleased to share the press release that was issued yesterday by KAT6A to announce the launch of their registry.
West Nyack, NY, January 08, 2019 — The KAT6A Foundation and the National Organization for Rare Disorders today launched the largest-ever study to research KAT6A Gene Mutation that causes KAT6A Syndrome. KAT6A Syndrome currently has no cure.
The new study, KAT6A Patient Registry creates a platform for patients around the world to share information about KAT6A Syndrome. Its purpose is to build an international resource to be used by scientists in future research.
“The KAT6A Patient Registry will provide a complete picture of each patient’s experience with KAT6A syndrome “ said KAT6A Foundation Chief Executive Officer Emile Najm. “ We are launching this initiative to help fill the missing link researchers and medical experts need to advance research and get to a cure.”
To help drive awareness and participation, The KAT6A Foundation will highlight information about the registry on its social media (Facebook, website, Instagram and YouTube).
“Our goal is to enroll as many patients, or their parents or legal guardians, as possible,” said Najm. “The success of the registry is dependent upon community participation.”
The KAT6A Patient 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. The KAT6A Foundation 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.
The KAT6A Foundation is launching the study in collaboration with the National Organization for Rare Disorders (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. The KAT6A Foundation 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 Vanessa Boulanger, NORD’s Director of Research Programs. “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 The KAT6A Foundation, as a partner in our IAMRARETM Registry Community!”
The KAT6A Syndrome is a rare genetic disorder that occurs in about 150 known cases worldwide people. Common traits are: developmental delay, intellectual disability, feeding difficulties, constipation, acid reflux, significant speech and language deficits, heart defects, seizure disorders, frequent infections, sleep disturbances, abnormal muscle tone, vision problems, behavioral challenges, small head size and distinct facial features.
For more information, visit https://www.kat6a.org/kat6a-registry/
About The KAT6A Foundation
The KAT6A Foundation was created in 2017 by parents of children identified with a mutation in the KAT6A gene. The Kat6a Foundation is the first ever 501(c)(3) nonprofit organization founded to support the international KAT6A syndrome community. Our mission is to support families coping with this extremely rare disease. Since very little is known about KAT6A syndrome, it is imperative that we support research that will inform families, identify treatments and lead to a cure. It is equally important that we increase awareness and identify more individuals with KAT6A syndrome so that researchers give our community greater consideration.