The National Institutes of Health has awarded Baylor College of Medicine more than $15.6 million to fund two rare disease research consortia within the Rare Diseases Clinical Research Network. The funding includes $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 Enters Final Phase
The BBDC, led by Baylor College of Medicine and Texas Children's Hospital, focuses on advancing research and treatment for osteogenesis imperfecta (OI), a genetic disorder characterized by brittle bones that break easily and affects both children and adults. The consortium coordinates 12 clinical sites nationwide.
Over its first decade, the BBDC has achieved significant milestones in rare disease research. Researchers have recruited the largest longitudinal cohort of OI patients in the world, collecting comprehensive data on skeletal features, quality of life, and psychosocial impacts. The consortium has launched two interventional clinical trials addressing bone and dental health, including a trial studying anti-TGFβ treatment that subsequently led to an industry-sponsored study.
"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 at Baylor.
Three-Pronged Research Strategy
In its third and final five-year cycle, the BBDC will focus on three key projects. First, researchers will complete their longitudinal study with six years of follow-up for more than 1,000 enrolled participants, incorporating whole genome sequencing, return of pathogenic results, and radiograph analysis to address disease progression.
Second, the consortium will conduct a randomized, controlled trial of a bio-psychological pain intervention to 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.
The BBDC has established 10 pilot studies addressing patient needs and published nearly 50 research manuscripts based on data collected directly from patient studies. Over the next five years, the consortium will continue training junior investigators in clinical bone research while collaborating 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," said OIF CEO Tracy Hart.
New Consortium Targets Metabolic Disorders
The newly launched ROAR Consortium will conduct clinical and translational research on organic acidemias, a group of genetic metabolic disorders involving defects in protein and energy metabolism. Baylor College of Medicine and Texas Children's Hospital lead the consortium's five clinical sites.
The consortium's clinical projects 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.
Multi-Institutional Collaboration
The ROAR Consortium includes Children's National Medical Center, University of Pittsburgh, University of Minnesota, and University of Colorado as consortium sites. Two patient advocacy groups, the Organic Acidemias Association (OAA) and Propionic Acidemia Foundation (PAF), are consortium members and will advance education for patients, families, and healthcare providers.
"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 will recruit and train new investigators in organic acidemias research while serving as a hub for developing innovative management and treatment strategies.
"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.
Funding and Support Structure
The BBDC receives funding from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (U54AR068069), with co-funding from multiple NIH institutes including 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.
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.
