NIH R01 · 2024
Laminin protein therapy for the treatment of Laminin-alpha2 deficient congenital muscular dystrophy
Project Summary Laminin-α2-related Congenital Muscular Dystrophy (LAMA2-CMD), also known as Merosin Deficient Congenital Muscular Dystrophy type 1A (MDC1A), is a devastating neuromuscular disease characterized by progressive muscle weakness from birth. LAMA2-CMD is caused by mutations in the LAMA2 gene, which results in the loss of the Laminin-α2 protein. Laminin-α2 is critical for the formation of laminin-211 and laminin-221 heterotrimers, which are major components of the muscle basal lamina that support muscle structure and function. LAMA2-CMD patients exhibit muscle weakness from birth, loose ambulation, require ventilator support, feeding tube insertion and die prematurely. There is…
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