Federal Grant Award Summary

The University of Alabama at Birmingham received a $149,000 Project Grant from the National Center for Advancing Translational Sciences (NCATS, CFDA 93.350) awarded February 1, 2026, with a completion date of January 31, 2027. The grant funds research to define molecular mechanisms and identify therapeutic strategies for X-linked Myopathy with Excessive Autophagy (XMEA), a rare autophagic vacuolar myopathy caused by pathogenic mutations in the VMA21 gene. The deliverables include continued development and characterization of novel disease models—specifically a VMA21 knock-in mouse model based on an RNA-splice mutation identified in XMEA patients and VMA21 mutant zebrafish models exhibiting loss-of-function pathology—to better understand disease pathogenesis and establish platforms for therapeutic screening.

The research addresses a significant gap in XMEA treatment development by generating preclinical models that phenocopy patient symptoms, including progressive muscle weakness, vacuolar inclusions, and impaired autophagy function. These models will support biomarker studies and translational research efforts to advance diagnostic and therapeutic options for this understudied rare disease population. This award aligns with NCATS's mission to accelerate the translation of scientific discoveries into clinical interventions by funding foundational preclinical research that removes bottlenecks in the drug development pipeline for rare diseases.