Our Impact

Achievements in Patient Education and Participation

In March 2023, there were 17 patients registered with Simons Searchlight, 7 lab reports approved, 3 medical histories/surveys completed, and 0 blood samples completed. We now have over 100 patients registered, 75 lab reports approved, 45 medical histories completed, 56 surveys completed and 12 blood samples.

• In order to prepare for Clinical Trials, we have provided the opportunity for patients with pathogenic or likely pathogenic mutations on the MEF2C gene to have research assessments performed at Boston Children’s Hospital. This data collection and analysis will be used to develop a toolkit of outcome measures specific to MEF2C, including assessments and disorder specific measures, which could be used in an interventional clinical trial. This has been accomplished through a Sponsored Research Agreement with the Lab of Wendy Chung, MD, PhD, clinical and molecular geneticist and Chief of the Department of Pediatrics at Boston Children’s Hospital and Harvard Medical School, a leader in the rare disease arena.

• The study will include the coupling of data from Simons Searchlight with data from the Research Assessments performed at Boston Children’s Hospital.

• The study will also include the establishment of a process for follow-up and monitoring of MEF2C patients with pathogenic or likely pathogenic mutations.

Funded Projects

• Participated in funding the Cowan Lab at MUSC, for the development of an RNA-based therapeutic which interferes with cell machinery that naturally functions to limit the levels of MEF2C, with the goal to interfere with the ability of that machinery to reduce MEF2C levels, thus increasing the levels of MEF2C to a minimum threshold needed to restore normal cell function.

• Established a Sponsored Research Agreement with the Chung Lab at Boston Children’s Hospital to fund landmark research assessments of MEF2C patients and the creation of a robust natural history.