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.<br /><br />Learn more about the RDCRN: <a href="https://www.rarediseasesnetwork.org" rel="noopener">https://www.rarediseasesnetwork.org</a>
Rare Research Report
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207 episodes
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Podcast Overview
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.<br /><br />Learn more about the RDCRN: <a href="https://www.rarediseasesnetwork.org" rel="noopener">https://www.rarediseasesnetwork.org</a>
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Publishing Since
8/15/2022
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Recent Episodes
May 14, 2026
GLIA-CTN: Developing a New Patient-Centered Approach to Clinical Trial Readiness in Aicardi-Goutières Syndrome
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the journal <i>Molecular Genetics and Metabolism </i>in March 2026 titled "A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS)." <br /><br /><a href="https://www.sciencedirect.com/science/article/pii/S109671922600048X?via%3Dihub" target="_blank" rel="noreferrer noopener">Read the paper here. </a><br /><br /><a href="https://glia-ctn.rarediseasesnetwork.org" target="_blank" rel="noreferrer noopener">Learn more about GLIA-CTN. </a><br /><br /><b>Transcript: </b><br /><br />New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN), a research group of the Rare Diseases Clinical Research Network.<br /><br />Developing a New Patient-Centered Approach to Clinical Trial Readiness in Aicardi-Goutières Syndrome.<br /><br />This summary is based on a paper published in the journal <i>Molecular Genetics and Metabolism </i>in March 2026.<br /><br />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.<br /><br />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.<br /><br />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.
May 14, 2026
SP-CERN: Characterizing Movement Disorders and Treatment Responses in Aicardi-Goutières Syndrome
New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN). This summary is based on a paper published in the journal <i>Annals of Clinical and Translational Neurology</i> on April 25, 2026, titled "Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation." <br /><br /><a href="https://onlinelibrary.wiley.com/doi/10.1002/acn3.70407" target="_blank" rel="noreferrer noopener">Read the paper here. </a><br /><br /><a href="https://www.rarediseasesnetwork.org/sp-cern" target="_blank" rel="noreferrer noopener">Learn more about SP-CERN. </a><br /><br /><b>Transcript: </b><br /><b></b><br />New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN), a research group of the Rare Diseases Clinical Research Network.<br /><br />Characterizing Movement Disorders and Treatment Responses in Aicardi-Goutières Syndrome.<br /><br />This summary is based on a paper published in the journal <i>Annals of Clinical and Translational Neurology</i> on April 25, 2026.<br /><br />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.<br /><br />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.<br /><br />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.
May 14, 2026
UCDC: Investigating Self-Reported Health-Related Quality of Life in Adults with Urea Cycle Disorders
New research from the Urea Cycle Disorders Consortium (UCDC). This summary is based on a paper published in the <i>Journal of Inherited Metabolic Disease </i>on April 9, 2026, titled "Self-Reported Health-Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders." <br /><br /><a href="https://onlinelibrary.wiley.com/doi/10.1002/jimd.70183" target="_blank" rel="noreferrer noopener">Read the paper here. </a><br /><br /><a href="https://ucdc.rarediseasesnetwork.org" target="_blank" rel="noreferrer noopener">Learn more about UCDC. </a><br /><br /><b>Transcript: </b><br /><b></b><br />New research from the Urea Cycle Disorders Consortium (UCDC), a research group of the Rare Diseases Clinical Research Network.<br /><br />Investigating Self-Reported Health-Related Quality of Life in Adults with Urea Cycle Disorders. <br /><br />This summary is based on a paper published in the <i>Journal of Inherited Metabolic Disease </i>on April 9, 2026.<br /><br />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.<br /><br />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.<br /><br />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.
207 total episodes available
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