Press Release
KBG Foundation Awards Grant to Charlotte Ockeloen for Medication Study
MANCHESTER, Md. -- KBG Foundation has awarded a 2023 Seed Funding Grant to Dr. Charlotte Ockeloen, clinical geneticist with Radboud University Medical Center, Netherlands, to begin a trial to determine the efficacy and dosing of methylphenidate on attention deficit, behavior, emotional regulation, and general functioning in children and adolescents with KBG syndrome.
Ockeloen, who has published several papers helping to define the phenotype of KBG syndrome, is a member of the KBG Foundation Scientific Advisory Board.
“Behavioral issues are a frequent feature of KBG syndrome, and I and my team have already seen a number of patients, particularly with ADHD-related symptoms even without a formal ADHD diagnosis,” Ockeloen said. “I’m grateful to the KBG Foundation for its support in further studying a potential treatment for some of the most common KBG symptoms.”
Ockeloen’s project is the fifth to receive funding from the KBG Foundation. The Seed Funding Program is intended to expedite research projects by supporting investigative research into KBG syndrome and ANKRD11 or otherwise enabling projects exploring KBG syndrome and potential treatments to move forward.
“So many people in our KBG community struggle with attention, behavior, emotional regulation and impulse control issues and continually have to try different medications,” said Annette Maughan, CEO and cofounder of the KBG Foundation. “We are looking forward to learning from a study focused specifically on our children and adolescents, and we thank Dr. Ockeloen for her work.”
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. For more information about the Seed Funding program and other initiatives or to donate, visit https://www.kbgfoundation.com/home.html.