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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...
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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.org
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Learn more about the RDCRN: https://www.rarediseasesnetwork.org
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30 AGO 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."
https://journal.chestnet.org/article/S0012-3692(26)00375-2/abstract
https://bbd.rarediseasesnetwork.org
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.
30 AGO 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."
https://link.springer.com/article/10.1186/s12916-026-04944-3
https://namdc.rarediseasesnetwork.org
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.
30 AGO 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."
https://onlinelibrary.wiley.com/doi/10.1002/jimd.70203
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.
29 LUG 2026 · New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the journal The Lancet Gastroenterology and Hepatology on June 23, 2026, titled "Dupilumab versus placebo in adults and adolescents with eosinophilic gastritis (DEGAS): a double-blind, placebo-controlled, phase 2, multicentre, randomised controlled trial."
https://www.thelancet.com/journals/langas/article/PIIS2468-1253(26)00116-0/fulltext
Learn more about CEGIR: https://cegir.rarediseasesnetwork.org
Transcript:
Eosinophilic gastritis (EoG) is a rare immune disease that occurs when white blood cells called eosinophils build up in the digestive tract in association with injury and inflammation. For individuals with EoG, this makes eating difficult or even impossible. Heartburn, nausea, vomiting, weight loss, and bloating can be painful and lifelong. However, there are currently no FDA-approved medications for EoG.
In this study, researchers investigated the use of dupilumab to improve outcomes for individuals with EoG. Forty-one participants with EoG were given dupilumab or a placebo for 12 weeks. Then, researchers evaluated outcomes, including eosinophil counts in the stomach.
Results showed that dupilumab improved the primary outcome and several secondary outcomes, including gastric eosinophil counts, histopathologic and endoscopic abnormalities, and transcriptomic biomarkers compared to the placebo group. Authors note that these findings provide a framework for larger-scale studies and improve understanding of the mechanisms of inflammation in EoG.
29 LUG 2026 · New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN). This summary is based on a paper published in the journal Brain on May 5, 2026, titled "Genotype–structure–phenotype correlations define divergent natural history in early-onset spastic paraplegia type 4."
https://academic.oup.com/brain/advance-article-abstract/doi/10.1093/brain/awag150/8667235?redirectedFrom=fulltext
https://www.rarediseasesnetwork.org/sp-cern
Transcript:
Hereditary spastic paraplegia type 4 (SPG4) is the most common form of hereditary spastic paraplegia, a large group of inherited disorders that affect the long nerve pathways carrying movement signals from the brain down the spinal cord to the legs. SPG4 is caused by changes in the SPAST gene. People with SPG4 commonly experience difficulty walking due to muscle weakness and spasticity (muscle rigidity) in the legs, as well as hyperreflexia (overactive bodily reflexes), urinary urgency or bladder dysfunction, and mild loss of vibration sense in the feet. Symptoms and time of disease onset can be very different from person to person, even within the same family. Not much is known about the natural history of SPG4, making it difficult to conduct clinical trials and find new therapies.
In this study, researchers investigated genotype–phenotype correlations and the natural history of early-onset SPG4. The team used deep phenotyping to analyze 206 patients with genetically confirmed SPG4 from seven international centers. Researchers also studied data from an additional 146 patients from previous studies.
Results provide the most detailed natural history of SPG4 to date, creating a framework that links specific genetic variants to different clinical trajectories. Authors note that these findings can improve care and optimize clinical trial design for SPG4.
26 GIU 2026 · New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the Orphanet Journal of Rare Diseases on April 28, 2026, titled "Rigorous genetic diagnosis review in natural history studies."
https://link.springer.com/article/10.1186/s13023-026-04317-2
https://glia-ctn.rarediseasesnetwork.org
Transcript:
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN), a research group of the Rare Diseases Clinical Research Network.
Developing a New Process to Improve Diagnostic Accuracy in Leukodystrophies.
This summary is based on a paper published in the Orphanet Journal of Rare Diseases on April 28, 2026.
Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the protective coating around nerves. Different leukodystrophies can have many different genetic variants and symptoms, making them difficult to diagnose.
In this study, researchers developed a new process to improve diagnostic accuracy in leukodystrophies. First, genetic counselors with expertise in leukodystrophies review participants’ medical records, assessing the clinical, biochemical, and molecular features. Next, the team assigns diagnostic categories based on the record review. Finally, leukodystrophy physician experts consult for cases that need additional characterization or clarification.
The process has resulted in a large database of individuals with verified leukodystrophy diagnoses, improving identification of patients that can participate in natural history studies and treatment trials. Authors note that this process can also be used by other rare disease groups.
26 GIU 2026 · New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the journal Developmental Medicine & Child Neurology on April 30, 2026, titled "Performance outcomes of the PEDI-CAT for assessing functional ability in the population with leukodystrophy."
https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70299
https://glia-ctn.rarediseasesnetwork.org
Transcript:
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN), a research group of the Rare Diseases Clinical Research Network.
Measuring Function in Children with Leukodystrophy.
This summary is based on a paper published in the journal Developmental Medicine & Child Neurology on April 30, 2026.
Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the protective coating around nerves. Although all leukodystrophies affect neurological function, the severity and speed of progression can be very different among different types.
In this study, researchers evaluated a tool to measure function in children with leukodystrophy. Ninety-nine caregivers completed four domains (daily activities, mobility, social/cognitive, and responsibility) of a parent-reported assessment called the Pediatric Evaluation of Disability Index-Computer Adapted Test (PEDI-CAT). Researchers compared the results of the daily activities and mobility domains with clinician-administered assessments, including grasp and visual motor integrations subtests, of the Peabody Developmental Motor Scale (PDMS-2) and the 88-item Gross Motor Function Measure (GMFM-88).
Results showed a strong agreement between the PEDI-CAT and the above standard assessments. This suggests that the PEDI-CAT is a reliable way to measure functional abilities in leukodystrophy, especially when clinician-administered assessments are not possible. The authors note that the PEDI-CAT is a potentially critical tool for leukodystrophy families to be able to participate in research remotely.
14 MAG 2026 · New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the journal Molecular Genetics and Metabolism in March 2026 titled "A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS)."
https://www.sciencedirect.com/science/article/pii/S109671922600048X?via%3Dihub
https://glia-ctn.rarediseasesnetwork.org
Transcript:
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN), a research group of the Rare Diseases Clinical Research Network.
Developing a New Patient-Centered Approach to Clinical Trial Readiness in Aicardi-Goutières Syndrome.
This summary is based on a paper published in the journal Molecular Genetics and Metabolism in March 2026.
Aicardi-Goutières syndrome (AGS) is a type 1 interferonopathy primarily associated with multisystemic involvement, including severe neurologic impairment. With advancements in therapeutics for disorders such as AGS, there is an urgent need to ensure that patient voices are included early in the design of clinical trials.
In this study, researchers developed a new patient-centered approach to clinical trial readiness and piloted the approach in AGS. First, the team worked with patients and caregivers to identify their health priorities for improvement. Following this, the team engaged a panel of disease experts to identify the priorities applicable in the context of AGS clinical trials (Concepts of Interest). Next, through consensus building among a panel of outcome experts, the team selected Clinical Outcome Assessments able to measure the identified Concepts of Interest. Finally, the team presented the Concepts of Interest and the aligned Clinical Outcome Assessments to patients and caregivers to establish the feasibility of completion of these assessments in clinical trials.
This process led to the identification of a panel of fit-for-purpose Concepts of Interest and Clinical Outcome Assessments pairs that can be used to identify endpoints for future AGS clinical trials and natural history studies. Authors note that this approach can be applied to other leukodystrophies and rare diseases.
14 MAG 2026 · New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN). This summary is based on a paper published in the journal Annals of Clinical and Translational Neurology on April 25, 2026, titled "Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation."
https://onlinelibrary.wiley.com/doi/10.1002/acn3.70407
https://www.rarediseasesnetwork.org/sp-cern
Transcript:
New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN), a research group of the Rare Diseases Clinical Research Network.
Characterizing Movement Disorders and Treatment Responses in Aicardi-Goutières Syndrome.
This summary is based on a paper published in the journal Annals of Clinical and Translational Neurology on April 25, 2026.
Aicardi-Goutières syndrome (AGS) is a genetic autoinflammatory disorder primarily affecting the brain, skin, and immune system. Individuals with AGS can experience a wide range of neurological symptoms, even when they have the same gene mutation, causing many to be misdiagnosed as having cerebral palsy.
In this study, researchers characterized movement disorders and treatment responses in AGS. The team evaluated motor symptoms, neuroimaging, and interferon signatures in seven children with AGS treated with immunomodulatory therapies.
Results show that these therapies were associated with reduced systemic inflammation and stabilized disease. However, only some participants experienced improved motor function, suggesting that established central nervous system injury may limit recovery. Authors note that these findings highlight the need for early recognition and treatment before further injury may occur.
UCDC: Investigating Self-Reported Health-Related Quality of Life in Adults with Urea Cycle Disorders
14 MAG 2026 · New research from the Urea Cycle Disorders Consortium (UCDC). This summary is based on a paper published in the Journal of Inherited Metabolic Disease on April 9, 2026, titled "Self-Reported Health-Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders."
https://onlinelibrary.wiley.com/doi/10.1002/jimd.70183
https://ucdc.rarediseasesnetwork.org
Transcript:
New research from the Urea Cycle Disorders Consortium (UCDC), a research group of the Rare Diseases Clinical Research Network.
Investigating Self-Reported Health-Related Quality of Life in Adults with Urea Cycle Disorders.
This summary is based on a paper published in the Journal of Inherited Metabolic Disease on April 9, 2026.
Urea cycle disorders (UCDs) are a group of inherited, metabolic disorders characterized by hyperammonemia (high blood ammonia levels). People diagnosed with a UCD often require ongoing health surveillance, long-term treatments, and emergency management for hyperammonemic episodes. Although many studies have focused on health-related quality of life in children with UCDs, fewer have focused on adults.
In this study, researchers investigated self-reported health-related quality of life in adults with UCDs. The team assessed patient-reported outcome measures in 144 adults with UCD.
Results reveal that adults with UCDs report similar health-related quality of life as adults in the general population. Despite significant differences in measured cognitive ability, symptomatic and asymptomatic individuals reported similar behavioral health and daily functioning scores. Authors note that more studies are needed to better understand and measure health-related quality of life in people with UCDs.
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...
mostra di più
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.org
mostra meno
Learn more about the RDCRN: https://www.rarediseasesnetwork.org
Informazioni
| Autore | RDCRN |
| Organizzazione | RDCRN |
| Categorie | Scienze |
| Sito | www.rarediseasesnetwork.org |
| rdcrn.edc@gmail.com |
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