NIH R01 · 2025
Targeting TGFb In Osteogenesis Imperfecta
PROJECT SUMMARY Osteogenesis Imperfecta (OI) is a group of heterogeneous brittle bone disorders. Over 95% of patients harbor dominantly inherited structural mutations in the type I procollagen genes (COL1A1 and COL1A2) or recessively inherited mutations in the protein complexes important in type I collagen post-translational assembly and hydroxylation. Currently, there are no FDA-approved treatments for OI. While off-label use of anti-resorptive bisphosphonates has become a de facto standard of care especially in children with OI, their clinical impact on fracture incidence, mild OI type I (> 50% of patients), and adult, severe OI with lower bone formation is unclear. This highlights the…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.