News & Events

MED13L Milestones and Awareness

We are excited to announce that the MED13L cohort of the Accelerating Clinical Trial Readiness Innovations for Monogenic Neurodevelopmental Disorders (ACTION) Initiative reached full enrollment in May 2026.

Led by Principal Investigator, Maya Chopra, MBBS, FRACP, the ACTION Initiative is an umbrella natural history study for rare neurodevelopmental disorders, tailored to each individual cohort. The MED13L Syndrome cohort for ACTION was funded and developed in partnership with the MED13L Foundation. This three-year longitudinal natural history study aims to advance critical research and help prepare the MED13L syndrome community for future clinical trials. Reaching this enrollment milestone is a significant achievement for both the research team and MED13L community as we enter the second year of data collection, and was particularly meaningful during May, as the month is focused on MED13L Awareness for the community.

The TNC research team extends their sincere gratitude to all families who stepped forward, expressed interest, and participated in this initiative. This passionate and collaborative community will help steer future translational research efforts, in addition to building visibility for a rare disease and others like it.