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Rare Research Report: August 2026
Each month, we share summaries of recent Rare Diseases Clinical Research Network (RDCRN) grant-funded publications. Catch up on the latest RDCRN research below.Jump to:Brittle Bone Disorders Consortium (BBDC)North American Mitochondrial Disease Consortium (NAMDC)Rare Organic Acidemias Research Consortium (ROAR)Listen to these summaries on the Rare Research Report podcast. Brittle Bone Disorders Consortium (BBDC)Evaluating Lung Disease in Adults with Osteogenesis Imperfecta Osteogenesis imperfecta (OI) is a group of inherited connective tissue disorders associated with a wide range of symptoms, including fragile bones that break easily. Although cardiopulmonary impairment—when the heart and lungs are not functioning properly—is a leading cause of mortality in individuals with OI, not much is known about what causes these issues. In this study, researchers evaluated cardiopulmonary outcomes and differences in pulmonary function among 60 adults with OI. The team tested for scoliosis, lung disease, lung restriction, and cardiac health. Results showed a low association between pulmonary function and spinal curve magnitude, suggesting that respiratory impairment may result from OI rather than scoliosis. Authors note that more research is needed to better understand the cause of outcomes like bronchial wall thickening and bronchiectasis in OI.Derocher CE, Carter EM, Dyer D, Krakow D, Wu M, Sandhaus RA, Raggio CL. Evaluation of Lung Disease in Adults With Osteogenesis Imperfecta: A Cross-Sectional, Multicenter Study. Chest. 2026 Jul;170(1):181-189. doi: 10.1016/j.chest.2026.02.030. Epub 2026 Mar 20. PMID: 41865786. North American Mitochondrial Disease Consortium (NAMDC)Assessing Exercise Training Protocols in Primary Mitochondrial DiseasesPrimary mitochondrial diseases (PMD) are a large group of metabolic disorders caused by pathogenic variants in mitochondrial or nuclear DNA that impair the cell's ability to produce energy. The most common symptoms are muscle weakness and fatigue, making it difficult for individuals with PMD to complete daily living activities like walking, cleaning, and cooking. Although exercise has shown benefits in a small number of PMD studies, standardized exercise regimens have not been established. In this study, researchers assessed exercise training protocols in PMD. First, the team identified 109 exercise training protocols from previous studies. Next, they analyzed the key outcome measures from these studies. Then, they evaluated each protocol’s likelihood of successful implementation in future exercise studies of PMD. Results highlight several exercise training protocols that could be feasible and effective in PMD, including high-intensity circuit training, low-intensity steady-state aerobic exercise, low-intensity resistance training, and blood flow restriction resistance training. Authors note that further studies are needed to understand the effects of different types of exercise in PMD. Martin I, Flickinger J, Rahaman I, Sarna T, Ballance EB, Ginelli N, Peterson JT, Uryash A, Adams JA, Xiao R, Zolkipli-Cunningham Z. Quantitative assessment of efficacy and evaluation of feasibility of exercise training protocols in adult and pediatric primary mitochondrial disease. BMC Med. 2026 May 22. doi: 10.1186/s12916-026-04944-3. Epub ahead of print. PMID: 42174583. Rare Organic Acidemias Research Consortium (ROAR)Exploring Clinical and Mechanistic Data on Immune Dysregulation in Organic Acidemias Organic acidemias are a group of inherited metabolic disorders where the body cannot properly break down certain proteins and fats, leading to a buildup of organic acids. Individuals with organic acidemias commonly experience metabolic and neurological crises. Although many individuals also experience frequent infections and immune issues, less is known about these types of symptoms. In this review, researchers explored clinical and mechanistic data on immune dysregulation in organic acidemias. First, the team searched for data from clinical cohorts, case reports, and mechanistic studies related to organic acidemias and immune dysfunction. Then, they used this data to build a conceptual model of immune dysregulation in organic acidemias and identify key gaps for future research. Results show that immune dysregulation is a common feature of organic acidemias, even during metabolically stable periods. Authors note that integrating immune monitoring into the care and study of patients with these disorders is essential to fully understanding and addressing how organic acidemias affect multiple systems in the body. Shakerdi AL, Drda J, Dutta JA, Vockley J. Immune Dysregulation in Branched Chain Organic Acidemias. J Inherit Metab Dis. 2026 Jul;49(4):e70203. doi: 10.1002/jimd.70203. PMID: 42381225; PMCID: PMC13320151. The Rare Diseases Clinical Research Network (RDCRN) is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Division of Rare Diseases Research Innovation (DRDRI). Now in its fifth five-year funding cycle, RDCRN is a partnership with funding and programmatic support provided by Institutes, Centers, and Offices across NIH, including the National Institute of Neurological Disorders and Stroke, the National Institute of Allergy and Infectious Diseases, the National Institute of Diabetes and Digestive and Kidney Diseases, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, the National Institute of Arthritis and Musculoskeletal and Skin Diseases, the National Heart, Lung, and Blood Institute, the National Institute of Dental and Craniofacial Research, the National Institute of Mental Health, the Office of Dietary Supplements, the National Institute on Aging, the National Human Genome Research Institute, the National Institute on Deafness and Other Communication Disorders, and the Office of Research on Women’s Health.
