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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
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  • GLIA-CTN: Developing a New Process to Improve Diagnostic Accuracy in Leukodystrophies

    GLIA-CTN: Developing a New Process to Improve Diagnostic Accuracy in Leukodystrophies
    Jun 26 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."

    Read the paper here.

    Learn more about GLIA-CTN.

    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.
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    2 min
  • GLIA-CTN: Measuring Function in Children with Leukodystrophy

    GLIA-CTN: Measuring Function in Children with Leukodystrophy
    Jun 26 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."

    Read the paper here.

    Learn more about GLIA-CTN.

    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.
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    2 min
  • GLIA-CTN: Developing a New Patient-Centered Approach to Clinical Trial Readiness in Aicardi-Goutières Syndrome

    GLIA-CTN: Developing a New Patient-Centered Approach to Clinical Trial Readiness in Aicardi-Goutières Syndrome
    May 14 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)."

    Read the paper here.

    Learn more about GLIA-CTN.

    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.
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    2 min
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