Sponsored Research
The Volare Study
Clinical Readiness / Natural History
Weill Cornell Medical Center, under the leadership of Dr. Zachary Grinspan and Dr. Elizabeth Ross, is leading the Volāre Study — the first longitudinal clinical readiness and natural history study for MCHS. The study will track people with MCHS over time, both via in-person and virtual visits, using standardized assessments and FDA-aligned data systems. In-person enrollment is full, but virtual enrollment is open for all patients, regardless of country of residence. Read more about the study here and enroll here.
Pathways 2 Hope
Treatment Development
The Medical University of South Carolina, under the leadership of MEF2C expert Dr. Christopher Cowan, is developing two therapeutic candidates — an ASO and an AAV — both designed to increase MEF2C levels in the brain. In preclinical animal models, both candidates have shown 50–65% increases in MEF2C expression in neuronal cells. The Cowan Lab anticipates completing remaining preclinical work within 12–18 months, with a target of first-in-human administration in 2027.
Together, the Volāre Study and Pathways to Hope position the MCHS community to rapidly and safely evaluate gene-based therapies ahead of clinical trial.
MEF2C Haploinsufficiency Syndrome (MCHS): A Clinical Overview and Research Update
Our Clinical Overview and Research Update provides a concise introduction to MCHS, along with updates on our ongoing treatment development and clinical readiness research. Designed for non-specialist providers—including pediatricians, neurologists, therapists, educators, and support staff—this document helps families explain MCHS and several key research initiatives within our community to the professionals who care for and support their children.
Interested in Applying for a Research Grant?
Click here for our Application and additional details. Please note that Rare Bird does not subsidize indirect costs. We consider applications on a rolling basis.