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Diseases Studied

The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.

This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.

All Diseases > Pelizaeus-Merzbacher disease

Pelizaeus-Merzbacher disease (PMD)

Disease Category: Leukodystrophies

Pelizaeus-Merzbacher disease (PMD) is a rare genetic disorder that affects the brain and spinal cord. It is a type of leukodystrophy, a group of conditions that affect the white matter of the brain. These conditions damage the myelin sheath — the protective coating around nerve cells in the brain and spinal cord. Myelin helps messages travel quickly between cells in the brain and body. 

People with PMD are born with a change in the PLP1 gene. This gene helps make myelin, the protective coating around nerves. In people with PMD, myelin doesn't form the way it should. Without healthy myelin, messages from the brain travel slowly or stop altogether, which leads to the symptoms of PMD.

There are different types of PMD, and each one can cause different signs and symptoms. Symptoms usually start in babies or young children and may include: Unusual Eye Movements, Weak or Stiff Muscles, Trouble Breathing, Eating, Delayed Development.

Research groups studying this disease

Leukodystrophies
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Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)

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Recruiting

The purpose of this study is to: (a) define novel homogeneous groups of patients with leukodystrophies and work toward finding the cause of these disorders; (b) assess the validity and utility of next-generation sequencing in the diagnosis of leukodystrophies; (c) establish disease mechanisms in selected known leukodystrophies; (d) track current care and natural history of these patients to define the longitudinal course and determinants of outcomes in these disorders; and (e) contacting subjects with specific diagnoses (or lack thereof) with information about other research studies or clinical programs that may be beneficial.

This study seeks to query the Electronic Health Record (EHR) at participating institutions in an automated fashion in order to development a large-scale library of clinically pertinent natural history data for individuals with a confirmed diagnosis of leukodystrophy. Automated data extraction techniques will be supplemented by traditional/manual chart abstraction approaches to ensure data integrity. Data collection and analysis methodologies will undergo face validation, inter-rater reliability, reproducibility, longitudinal stability, internal validation and construct validity under the careful oversight of the GLIA-CTN Data Integration Core (DIC) based at the Children's Hospital of Philadelphia.

Aims to support individuals and families affected by leukodystrophy, raise awareness, and encourage leukodystrophy-related research.

Su misión es mejorar la calidad de vida de las personas afectadas por leucodistrofias impulsando la investigación y la educación para lograr diagnósticos tempranos que posibiliten el acceso a tratamientos adecuados.

Provides assistance and support to families affected by leukodystrophy, funds research projects, raises public awareness, and collaborates with international organizations to pool resources to develop research.

Offers support and information for all those affected by a genetic leukodystrophy.

This group seeks to maximise health care resources, advance the world’s leading research and to provide premium support for all Australasian leukodystrophy families with the outcome being a cure.

Find information about Pelizaeus-Merzbacher disease (PMD), ways to communicate with other families, research information into causes, treatment, prevention and cure of PMD, and much more.

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