Baylor College of Medicine has received new funding from the National Institutes of Health for two consortia in the Rare Diseases Clinical Research Network: $7.4 million over five years to renew the Brittle Bone Disorders Consortium (BBDC) and $8.2 million over five years to launch the Rare Organic Acidemias Research (ROAR) Consortium.
Brittle Bone Disorders Consortium
The BBDC aims to advance the study and treatment of osteogenesis imperfecta (OI), a genetic disorder affecting both children and adults characterized by brittle bones that break easily. Baylor serves as the leader of the 12 BBDC clinical sites (https://bbd.rarediseasesnetwork.org/). In the first 10 years of the BBDC, researchers have recruited the largest longitudinal cohort of OI patients in the world to collect data on skeletal features, quality of life and psychosocial impacts. The BBDC launched two interventional clinical trials addressing bone and dental health, including a trial studying anti-TGFβ treatment that led to an industry-sponsored study. Researchers also established 10 pilot studies addressing patient needs and published nearly 50 research manuscripts on the data collected directly from patient studies.
"The BBDC has demonstrated the power of collaborative multicenter research when aligned with our advocacy partner, the Osteogenesis Imperfecta Foundation (OIF), in changing the management and improving the lives of all OI patients," said principal investigator Dr. Brendan Lee, professor and chair of molecular and human genetics, Robert and Janice McNair Endowed Chair and director of the Center for Skeletal Medicine and Biology at Baylor.
In the third and final five-year cycle, the BBDC will focus on three projects. First, researchers will complete the longitudinal study with six years of follow up for the more than 1,000 enrolled participants, including whole genome sequencing, return of pathogenic results and analysis of radiographs to address disease progression. Second, a randomized, controlled trial of a bio-psychological pain intervention will address a major need reported by patients. Third, researchers will study and quantify bone and disease progression using high-resolution CT imaging to identify phenotypic endpoints for clinical trials. Over the next five years, the BBDC will continue to train junior investigators in clinical bone research and to collaborate with the OIF on patient education and advocacy.
"The Osteogenesis Imperfecta Foundation and the OI patient community are grateful for the opportunity to continue collaborating with rare bone disease experts as we work together to accelerate research that will improve the quality of life of people living with OI," OIF CEO Tracy Hart said.
The BBDC is funded by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (U54AR068069), with co-funding from the National Center for Advancing Translational Sciences, the National Human Genome Research Institute, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, the Office of Research on Women's Health and the National Institute of Dental & Craniofacial Research.
Rare Organic Acidemias Research Consortium
The ROAR 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. Baylor and Texas Children's Hospital serve as the leader of the five clinical sites. Clinical projects will include a prospective longitudinal observational study of patient phenotypes and outcomes, a clinical trial of treatment for cobalamin C disease (a disorder of vitamin B12 metabolism), and a randomized trial comparing virtual outpatient visits with in-person outpatient care.
"There is a significant need to better understand outcomes of current approaches to treatment and management as well as developing new therapies for rare organic acidemias," said principal investigator Dr. V. Reid Sutton, professor of molecular and human genetics at Baylor.
"By fostering strong collaboration with patient advocacy groups and other ROAR clinical sites, we can maximize our collective impact on improving outcomes in these disorders," said principal investigator Dr. Lindsay C. Burrage, associate professor of molecular and human genetics at Baylor.
The consortium also will work to recruit and train new investigators in organic acidemias research. It will serve as a hub for the development of innovative strategies for managing and treating these disorders. Two patient advocacy groups, the Organic Acidemias Association (OAA) and Propionic Acidemia Foundation (PAF), are members of the consortium and will work to advance education for patients, families and healthcare providers.
"The Organic Acidemia Association is committed to supporting families and advancing knowledge about these rare metabolic disorders, and joining the ROAR Consortium allows us to continue that mission on a broader scale," said OAA Executive Director Kathy Stagni.
"The Propionic Acidemia Foundation celebrates this vital step forward in accelerating collaborative studies and innovative therapies for propionic acidemia. This funding amplifies our shared commitment to improving outcomes for affected families," said PAF Founder and President Jill Chertow.
Children's National Medical Center, University of Pittsburgh, University of Minnesota and University of Colorado also will serve as consortium sites. The ROAR Consortium is funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (U54HD121579) with co-funding from the National Center for Advancing Translational Sciences and the National Human Genome Research Institute.
