KSF’s Medical and Scientific Advisory Board Approves KSF Research Roadmap During Annual Meeting
The annual meeting of the Medical and Scientific Advisory Board (M/SAB) of Kabuki Syndrome Foundation (KSF) was held virtually on April 6, 2023. The M/SAB helps guide KSF in accelerating therapeutic development, improving clinical care, and preparing for clinical trials. Advisory board members also participate in our interactive community events and review our educational content.
The purpose of the meeting was to ensure the community’s needs are reflected and met in the current research landscape and to better understand how KSF can drive research to meet those needs. KSF shared findings from our research gap analysis conducted in early 2023. The gap analysis identified the highest unmet research needs for treatment discovery and development. The agenda of the meeting focused on the discussion of three high priority areas identified as a result of the KSF gap analysis: lack of molecular understanding, lack of outcome measures, and lack of robust patient data repositories.
90% of KSF’s M/SAB agreed that outcome measure development is a priority to enable the advancement of Kabuki syndrome research. Outcome measures are tools used in clinical trials to measure the effect potential therapies have on a participant. Outcome measures can include special physician assessments, patient and family surveys, blood tests, x-rays, and more. Patients and families can influence clinical trial design to ensure the outcome measures are looking at symptoms that matter most to them.
80% of KSF’s M/SAB also prioritized a better understanding of the underlying molecular pathways of Kabuki syndrome. In other words, the “basic science” of Kabuki syndrome: on a cellular level, mutations on KMT2D and KDM6A can cause many changes that are yet to be defined or are in early stages of exploration. Patient registry and improved animal models (such as mice with Kabuki syndrome) were the next highest priorities identified by the M/SAB.
KSF also shared our new therapeutic roadmap, LEAP, which was developed based on the gap analysis and the needs of the patient community. The M/SAB members were supportive of LEAP, as it indeed addresses the identified shared priorities. LEAP is KSF’s roadmap to creating the brightest futures possible for everyone with Kabuki syndrome.
Members of the KSF M/SAB include, in alphabetical order:
Dr. Margaret Adam, Seattle Children’s Hospital;
Dr Siddharth Banka, University of Manchester;
Dr. Olaf Bodamer, Boston Children’s Hospital;
Dr Hans T. Bjornsson, University of Iceland/Johns Hopkins University;
Dr David Genevieve, Montpellier University;
Dr Kasturi Haldar, University of Notre Dame;
Dr Jacqueline Harris, Kennedy Krieger Institute/Johns Hopkins University;
Dr Giuseppe Merla, University of Naples Federico II/IRCCS CSS;
Dr Brittany Simpson, Cincinnati Children’s Hospital & Medical Center;
Dr Rosanna Weksberg, SickKids/University of Toronto;
Dr Alessio Zippo, University of Trento.
The annual meeting was chaired by Dr. Bruce Bloom, KSF Chief Scientific Officer. KSF Board members in attendance: Leila Zegna, mom to Roya and Vice President; and Patrick Dunbar, uncle to Lilly and Treasurer and Founder. KSF staff in attendance included Dr. Clara Tang, Director of Research, and Amanda Gamboa, Outreach Coordinator.
Interested in more details from the M/SAB meeting? Explore the deck summary prepared by Dr. Clara Tang, KSF Director of Research. Have a question or want to get more involved? Contact Dr. Tang: clara@kabukisyndromefoundation.org