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Rare Research Report

Rare Research Report

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Rare Research Report features summaries of recent scientific publications from the Rare Diseases Clinical Research Network, which is funded by the National Institutes of Health. The network includes 20 active consortia—teams of researchers, patients, and clinicians—each focused on a group of rare disorders. Join us for new episodes each month.

Learn more about the RDCRN: https://www.rarediseasesnetwork.orgCopyright RDCRN Science
Épisodes
  • BBDC: Evaluating Lung Disease in Adults with Osteogenesis Imperfecta

    BBDC: Evaluating Lung Disease in Adults with Osteogenesis Imperfecta
    Aug 30 2026
    New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the journal Chest in July 2026 titled "Evaluation of Lung Disease in Adults With Osteogenesis Imperfecta."

    Read the paper here.

    Learn more about BBDC.

    Transcript:

    New research from the Brittle Bone Disorders Consortium (BBDC), a research group of the Rare Diseases Clinical Research Network.

    Evaluating Lung Disease in Adults with Osteogenesis Imperfecta.

    This summary is based on a paper published in the journal Chest in July 2026.

    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.
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    1 min
  • NAMDC: Assessing Exercise Training Protocols in Primary Mitochondrial Diseases

    NAMDC: Assessing Exercise Training Protocols in Primary Mitochondrial Diseases
    Aug 30 2026
    New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the journal BMC Medicine on May 22, 2026, titled "Quantitative assessment of efficacy and evaluation of feasibility of exercise training protocols in adult and pediatric primary mitochondrial disease."

    Read the paper here.

    Learn more about NAMDC.

    Transcript:

    New research from the North American Mitochondrial Disease Consortium (NAMDC), a research group of the Rare Diseases Clinical Research Network.

    Assessing Exercise Training Protocols in Primary Mitochondrial Diseases.

    This summary is based on a paper published in the journal BMC Medicine on May 22, 2026.

    Primary 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.
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    2 min
  • ROAR: Exploring Clinical and Mechanistic Data on Immune Dysregulation in Organic Acidemias

    ROAR: Exploring Clinical and Mechanistic Data on Immune Dysregulation in Organic Acidemias
    Aug 30 2026
    New research from the Rare Organic Acidemias Research Consortium (ROAR). This summary is based on a paper published in the Journal of Inherited Metabolic Disease on June 30, 2026, titled "Immune Dysregulation in Branched Chain Organic Acidemias."

    Read the paper here.

    Learn more about ROAR: https://roar.rarediseasesnetwork.org/

    Transcript:

    New research from the Rare Organic Acidemias Research Consortium (ROAR), a research group of the Rare Diseases Clinical Research Network.

    Exploring Clinical and Mechanistic Data on Immune Dysregulation in Organic Acidemias.

    This summary is based on a paper published in the Journal of Inherited Metabolic Disease on June 30, 2026.

    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.
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    2 min
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