Posted by: Stephanie Khio
The MED13L Foundation has completed a five-year analysis of MED13L registry data from Simons Searchlight, led by Ricardo Ramirez, the Foundation’s Chief Scientific Officer. Drawing on 17 quarterly reports from 2021–2026, this analysis provides our clearest view yet of how the MED13L community has grown and what we are learning about the shared clinical features of MED13L Syndrome.
What we’ve learned
- Our community is growing. The number of participants with available medical-history data increased from 18 to 84—a 4.7-fold increase over 5.1 years. Total registry enrollment has now reached 191 individuals.
- The core features of MED13L Syndrome remain consistent. Among participants with available data, 96% had intellectual disability or developmental delay, 77% had low muscle tone, and 44% reported constipation, representing some of the most common developmental, neurological, and gastrointestinal features.
- The registry is becoming more valuable over time. As more participants reach adolescence and adulthood, we are gaining the ability to study how MED13L Syndrome changes across the lifespan and better understand the needs of older individuals.
- There is an important opportunity to deepen the data. Enrollment has grown faster than completion of detailed surveys and blood-sample collection. Closing this gap will be critical to understanding the full spectrum of MED13L Syndrome and identifying meaningful biomarkers and therapeutic targets.
Why this matters
A growing registry is more than a database, it is the foundation for the research and clinical studies that will shape the future of MED13L Syndrome. The more complete our collective clinical information, surveys, and biosamples, the better researchers can identify patterns, understand disease progression, develop biomarkers, and design future clinical trials.
If your family is already enrolled in Simons Searchlight, one of the most valuable ways you can advance MED13L research is by completing your medical-history surveys and providing a blood sample when possible. Every family’s participation adds another piece to the scientific picture and brings us closer to better treatments.
Data source: Simons Searchlight MED13L Registry Updates, 17 quarterly reports, 2021 through 2026.
