SYNGAP1 ProMMiS – Prospective Multidisciplinary, Multisite Study for Clinical Excellence

ProMMiS is a groundbreaking, prospective, multi-site natural history study designed to deepen our understanding of the progression of SYNGAP1-Related Disorders. The study aims to establish standardized clinical assessments and biomarkers essential for future clinical trials and treatment evaluation.

With its carefully curated approach, ProMMiS not only collects invaluable data but also serves as a foundation for defining the “standard of care” for SYNGAP1 patients. By building a network of multidisciplinary clinics, ProMMiS also lays the groundwork for future trial sites, accelerating the path to effective therapies.

Key Highlights of ProMMiS:

Participating Sites: Currently, patients are being evaluated at leading centers, including Children’s Hospital of Philadelphia (CHOP), Children’s Hospital Colorado (CHCO), and Stanford Children’s Health.
Patient Impact: Through the end of 2024, 92 unique participants have been evaluated with an additional 18 already scheduled for initial visits in 2025. Follow-up visits are also increasing with 19 participants completing a second visit and 4 completing a third.
Family Support: ProMMiS goes beyond research by ensuring families receive multidisciplinary care from clinics that have now seen more SYNGAP1 patients than anywhere else. Travel assistance has also been provided to 19 families in 2024, totaling $16.5K in support.

ProMMiS is more than a study; it’s a lifeline for families and a beacon of progress for the SYNGAP1 community. By bringing together patients, researchers, and clinicians, it fosters collaboration, builds capacity for future trials, and provides SYNGAP1 families with hope for a brighter future.

Once you have visited a ProMMiS site, please complete a short set of caregiver surveys through RARE-X to add valuable information that researchers cannot capture during clinic visits. See cureSYNGAP1.org/RAREX for more details!

The following sites are currently part of this program. We strongly encourage participation from every SYNGAP1 family. If you haven’t visited one of the following sites yet, please sign up today!

For all questions related to SYNGAP1 Natural History Studies – email ProMMiS@cureSYNGAP1.org