KSOC Researchers Meet in Baltimore to Share Progress
This March, researchers and advisors from the Kabuki Syndrome Outcome Measures and Biomarkers Consortium (KSOC) gathered in Baltimore, Maryland, to review results from the first cohort of KSOC participants. With participation from more than 150 individuals with Kabuki syndrome, this effort represents one of the largest coordinated clinical research initiatives focused on the condition to date.
The meeting marked an important milestone, as investigators shared early findings and discussed how these results will inform the development of outcome measures and biomarkers essential for future clinical trials.
What is KSOC?
KSOC is a collaborative clinical research initiative created, funded, and led by the Kabuki Syndrome Foundation. While several therapies are currently being explored in the research pipeline, there are not yet Kabuki syndrome-specific tools that can reliably measure whether these treatments improve symptoms.
KSOC was created to fill this critical gap.
The consortium brings together an international team of clinical, research, and industry advisors working collaboratively to accelerate the development of these tools. KSOC research areas focus on several promising approaches, including DNA methylation signatures, metabolomic markers identified in blood or urine samples, and auditory evoked event-related potentials (ERP) measured through EEG.
Why Outcome Measures and Biomarkers Are Needed?
Outcome measures and biomarkers are essential for the success of future clinical trials. An outcome measure is a tool used to determine the effect a therapy has on participants in a clinical trial. These measures can include clinical assessments, cognitive testing, or patient-reported outcomes. A biomarker is a measurable biological signal that reflects changes in the body, such as molecular, metabolic, or neurological changes.
For rare conditions like Kabuki syndrome, having validated outcome measures and biomarkers is particularly important. These tools allow researchers to determine whether a therapy is truly having a meaningful impact. They also help attract industry partners and increase the likelihood that promising treatments can advance in clinical trials.
Participation and Data Collection
KSOC has brought together a large international cohort of individuals with Kabuki syndrome. From 2023 to 2025, more than 150 participants enrolled and completed in-person research visits at one of the consortium’s four sites, forming the first KSOC cohort. This group includes individuals with Kabuki syndrome type 1, associated with variants in the KMT2D gene, and Kabuki syndrome type 2, associated with variants in the KDM6A gene.
Families traveled from across the United States and internationally to participate. Travel reimbursement was provided, and participants had the option to schedule a same-day clinical appointment with a Kabuki syndrome expert. Participants represented a wide range of ages and backgrounds, helping create a diverse dataset that will support the development of reliable research tools and outcome measures for future studies.
Promising Early Findings
With baseline data collection for the first cohort now complete, researchers are continuing to analyze the dataset. During the Baltimore meeting, investigators shared several promising early findings.
Researchers identified potential metabolomic markers that may help characterize biological differences associated with Kabuki syndrome.
Unique DNA methylation signatures were also observed for both Kabuki syndrome type 1 and type 2. These epigenetic patterns may provide a measurable biomarker that can help distinguish individuals with Kabuki syndrome and potentially track biological responses to therapy.
In addition, EEG studies examining auditory evoked event-related potentials (ERP) revealed significant differences in brain activity between individuals with Kabuki syndrome and control participants. These findings suggest that ERP-based measures may provide a useful tool for understanding neurological features of Kabuki syndrome and evaluating the effects of future therapies.
Investigators were able to refine the neurocognitive testing battery, identifying the most efficient and sensitive assessments to measure cognitive and behavioral outcomes. This optimized set of tools will help future studies and clinical trials measure the impact of potential therapies on cognitive and behavioral outcomes while reducing testing burden for participants.
Although analysis is still ongoing, the completion of baseline data collection for the first cohort of KSOC participants represents an important milestone for the consortium. The results presented in Baltimore will help guide the next phase of research as investigators continue refining and validating these potential biomarkers and outcome measures.
Looking Ahead
The completion of baseline data collection for the first cohort of KSOC participants is an important step toward building the scientific foundation needed for Kabuki syndrome clinical trials. By developing reliable outcome measures and biomarkers, the consortium is helping ensure that future therapies can be tested effectively and that their impact on individuals with Kabuki syndrome can be clearly measured.
This progress would not be possible without the dedication of the Kabuki syndrome community.
We are deeply grateful to the individuals and families who participated in KSOC research visits and contributed samples and testing. Each participant plays a critical role in advancing research and helping move the field closer to effective treatments.
We would also like to sincerely thank the funders and partners who have supported KSOC and made this work possible. Together, this collaborative effort is helping build the tools needed to bring meaningful therapies to the Kabuki syndrome community.