Federal Grant Award Summary

Virginia Commonwealth University received a $1.49M Project Grant from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) under the Arthritis, Musculoskeletal and Skin Diseases Research program (CFDA 93.846), awarded September 25, 2025, with completion targeted for August 31, 2030. The grant supports a Center designed to advance therapeutic development and access for myotonic dystrophy (DM1), a progressive multisystemic disorder caused by a toxic CUG repeat expansion. The project addresses critical gaps in clinical trial readiness by establishing natural history data, biomarker validation, and genetic modifier identification across the disease spectrum, including pediatric populations currently underrepresented in ongoing therapeutic trials.

Project deliverables include two coordinated research initiatives: Project 1 enrolls 150 children with congenital or childhood-onset myotonic dystrophy into a two-year observational study measuring motor function, cognition, and quality of life, with validation of a composite RNA splicing biomarker (Splice Index) in a subset population; Project 2 conducts a genome-wide association study (GWAS) leveraging over 1,600 DM1 participants from six prior or ongoing studies to identify genetic variants contributing to disease severity variation and therapeutic efficacy prediction. The award includes sub-grants to The Research Foundation For The State University Of New York (awarded April 9, 2026) and Roseman University of Health Sciences (awarded February 26, 2026) to support project execution in collaboration with the Myotonic Dystrophy Clinical Research Network and international research partners.