Press Release
KBG Foundation launches KBG Natural History Study
BALTIMORE, Maryland, May 11, 2023
Manchester, Md. - The KBG Foundation, a U.S.-based nonprofit organization with international partnerships working to improve the lives of people with KBG syndrome, has launched its KBG Foundation Natural History Study.
People with KBG syndrome or their legal caregivers are urged to participate in the study, which involves answering questionnaires about symptoms to create the most in-depth cross-section of information about this genetic disorder to date.
Information about the study and how to participate is available on the KBG Foundation’s website.
“We are incredibly excited to have launched this study, and we urge anyone with a confirmed diagnosis to take part,” said KBG Foundation CEO Annette Maughan. “The sooner we build a strong pool of data, the sooner the research community can use this new source of information to better understand this syndrome and find treatments.”
The study is powered by Across Healthcare’s Matrix platform, which will securely store the de-identified patient information. In addition to creating a data pool that will be valuable to the research community, the platform has numerous consumer-focused features that are available to participants.
Across Healthcare’s Matrix platform connects patients, caregivers, providers and researchers in order to collect data, provide a vast community, and advance toward the goal of finding answers and discovering cures.
Patients and researchers interested in learning more about the registry should visit KBG Foundation/Natural History Study or contact research@kbgfoundation.com.
About KBG syndrome
KBG syndrome is a rare genetic disorder caused by a mutation on the ANKRD11 gene and associated with a spectrum of challenges, including developmental delays, cognitive disabilities, behavioral disorders, autism, seizures, hearing loss, skeletal anomalies, heart complications and gastrointestinal problems. Most people with KBG share at least some physical traits, including a triangular face, heavy eyebrows, curved fingers and spine, and short stature.
About the KBG Foundation
The KBG Foundation is a 501(c)(3) nonprofit organization, dedicated to providing support, assisting in research programs and advocating to raise awareness about KBG Syndrome. Learn more at www.kbgfoundation.com, or follow us on Facebook, Twitter and LinkedIn.