NIH awards Baylor $15.6 million to fund two rare diseases consortia

NIH awards Baylor $15.6 Million to Fund Two Rare Diseases Consortia

Rare Daily Staff

The National Institutes of Health has awarded Baylor College of Medicine more than $15.6 million in funding for two consortia in the Rare Diseases Clinical Research Network.

The awards include a $7.4 million grant over five years to renew the Brittle Bone Disorders Consortium and an $8.2 million grant over five years to launch the Rare Organic Acidemias Research Consortium.

The Brittle Bone Disorders Consortium works to advance the study and treatment of osteogenesis imperfecta, a genetic disorder affecting both children and adults that is characterized by brittle bones that break easily. Baylor College of Medicine and Texas Children’s Hospital serve as the leader of the 12 Brittle Bone Disorders Consortium clinical sites. The funding will be the third and final five-year grant for the program.

“The Brittle Bone Disorders Consortium has demonstrated the power of collaborative, multicenter research when aligned with our advocacy partner, the Osteogenesis Imperfecta Foundation, in changing the management and improving the lives of all patients with osteogenesis imperfecta,” said principal investigator Brendan Lee, professor and chair of molecular and human genetics, and director of the Center for Skeletal Medicine and Biology at Baylor College of Medicine.

The Rare Organic Acidemias Research Consortium will conduct clinical and translational research on organic acidemias, a group of genetic metabolic disorders in which there is a defect in protein and energy metabolism. Clinical projects will include a prospective, longitudinal, observational study of patient phenotypes and outcomes, a clinical trial of treatment for cobalamin C disease, which is a disorder of vitamin B12 metabolism, and a randomized trial comparing virtual outpatient visits with in-person outpatient care.

“By fostering strong collaboration with patient advocacy groups and other Rare Organic Acidemias Research Consortium clinical sites, we can maximize our collective impact on improving outcomes in these disorders,” said principal investigator Lindsay Burrage, associate professor of molecular and human genetics at Baylor College of Medicine.