Baylor College of Medicine has secured over $15 million in funding from the National Institutes of Health (NIH) to support two consortia within the Rare Diseases Clinical Research Network. The Brittle Bone Disorders Consortium (BBDC) will receive $7.4 million over five years for its renewal, while the newly established Rare Organic Acidemias Research (ROAR) Consortium will be funded with $8.2 million over five years.
The BBDC focuses on osteogenesis imperfecta (OI), a genetic disorder marked by fragile bones in both children and adults. Baylor College of Medicine and Texas Children's Hospital lead 12 clinical sites involved in this consortium. Over the past decade, BBDC researchers have built the largest longitudinal cohort of OI patients globally, gathering data on skeletal characteristics, quality of life, and psychosocial impacts. The consortium has initiated two interventional clinical trials targeting bone and dental health, including one that investigated anti-TGFβ treatment and resulted in an industry-sponsored study. Additionally, ten pilot studies were launched to address patient needs, and nearly 50 research manuscripts have been published based on patient-derived data.
Dr. Brendan Lee, principal investigator for the BBDC at Baylor College of Medicine, stated: “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.”
In its next five-year cycle—the final for this initiative—the BBDC plans to complete a six-year follow-up for more than 1,000 participants through whole genome sequencing and radiograph analysis to better understand disease progression. Another project will test a bio-psychological pain intervention via a randomized controlled trial based on patient feedback about unmet needs. Researchers also aim to use high-resolution CT imaging to identify phenotypic endpoints for future clinical trials. Training junior investigators in bone research and continued collaboration with OIF on education and advocacy are additional priorities.
Tracy Hart, CEO of OIF, commented: “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.”
Funding for BBDC comes from several NIH institutes including the National Institute of Arthritis and Musculoskeletal and Skin Diseases as well as co-funding from other NIH centers focused on translational sciences, genomics, child health, women’s health, and dental research.
The ROAR Consortium aims to advance understanding and treatment options for organic acidemias—rare metabolic disorders involving defects in protein or energy metabolism—by leading five clinical sites under Baylor’s direction alongside Texas Children’s Hospital. Planned projects include a prospective observational study tracking patient outcomes over time; a clinical trial focusing on cobalamin C disease; and a randomized comparison between virtual outpatient visits versus traditional care models.
“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 Dr. V. Reid Sutton, principal investigator at Baylor College of Medicine.
Dr. Lindsay C. Burrage added: “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.”
Recruitment efforts will focus on training new investigators specializing in organic acidemias research while serving as a center for innovative strategies related to managing these conditions. The Organic Acidemias Association (OAA) and Propionic Acidemia Foundation (PAF) are part of this consortium’s membership base.
Kathy Stagni from OAA said: “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.”
Jill Chertow from PAF stated: “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.”
Other participating institutions include Children’s National Medical Center; University of Pittsburgh; University of Minnesota; and University of Colorado. Funding support comes primarily from NIH’s Eunice Kennedy Shriver National Institute of Child Health & Human Development along with additional contributions from other NIH branches focused on translational science and genomics.
