Kabuki Syndrome Consortium Meets in Toronto, Building the Largest Kabuki Syndrome Database
Pictured, from left to right: Dr. Rosanna Weksberg, Dr. Brittany Simpson, Dr. Jacqueline Harris, Dr. Jessica Weatherstone, Dr. Clara Tang, Dr. Margaret Adam, Dr. Asmita Yeola, Dr. Evdokia Anagnostou, Dr. Bruce Bloom, Dr. Mengqi Wang, and Dr. Sanaa Choufani.
Members of the Kabuki Syndrome Consortium Meet In-Person for First Time
This September, the Consortium members were hosted by the Kabuki Syndrome Foundation (KSF) and generously supported by Dr. Rosanna Weksberg of The Hospital for Sick Children (SickKids) and the University of Toronto. Attendees of this milestone meeting in Toronto, Canada, collaboratively discussed and aligned on several key items that advance the mission of the Consortium in support of treatments for Kabuki syndrome.
The Consortium, more formally known as the Kabuki Syndrome Outcome measure and biomarkers Consortium (KSOC), is a collaborative clinical research study created in 2023 and led by KSF to develop tools that are critical to future successful clinical trials. KSF funds and leads an international team of clinical, research, and industry experts to accelerate the development of outcome measures and biomarkers, which are tools that can be used in clinical trials to measure the effects of potential treatments. We aim to develop three potential biomarkers over the next two years and create the largest repository of Kabuki syndrome data for use in treatment development.
Enabling and Accelerating Data-Driven Treatment Development
The purpose of the meeting was to facilitate close collaboration amongst the five participating primary investigators and their institutions. All key objectives of the meeting were met, including aligning on the data collection and management of this phase of the consortium. By the end of 2025, the Consortium database will store over 200 data points from over 150 patients who participate in the study. Data points from blood, urine, behavioral analyses and more will be used to validate outcome measures and biomarkers. And beyond validating these tools for clinical trials, the de-identified data can also be shared, upon request and approval, with researchers and biotech/pharmaceutical representatives who are interested in advancing treatment development and the clinical care of people with Kabuki syndrome.
Kabuki Syndrome Consortium Steering Committee & Advisors
The steering committee, who routinely meets virtually every quarter, includes: Dr. Margaret Adam, Seattle Children’s Hospital & University of Washington; Dr. Evdokia Anagnostou, Holland Bloorview Kids Rehabilitation Hospital; Dr. Olaf Bodamer, Roya Kabuki Program at Boston Children’s Hospital; Dr. Jacqueline Harris, Kennedy Krieger Institute & Johns Hopkins University; Dr. Rosanna Weksberg, SickKids & University of Toronto; Tara Ghandour, a funding party representative; and Dr. Bruce Bloom, KSOC Chair and KSF Chief Scientific Officer.
The KSOC Advisory Board members were also in attendance and provided valuable feedback: Dr. D. Winston Bellott, Whitehead Institute, Massachusetts Institute of Technology; Dr. Hans T. Bjornsson, University of Iceland & Johns Hopkins University; Dr. David Genevieve, Montpellier University; and Dr. Barbara Handelin, 90/10 Institute, former-CEO of Audacity Therapeutics. Dr. Tjitske Kleefstra, Radboud University, provided her suggestions asynchronously.
KSF would also like to extend a deep appreciation to the research coordinators and associates who make this work possible, and the caregivers and family members who provided invaluable insight during this event.
The Consortium is Actively Enrolling
Recruitment and data collection is ongoing at multiple sites across North America! Families can learn more about participating, seeing an expert, and receiving travel reimbursement here.
Treatments are made possible by active, organized patient communities like ours. We invite you to take action and support our mission to find treatments: explore ways to give here.