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Null syndrome

MONDO:0017225

The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.

Also known as: PLP1 null syndrome, Pelizaeus-Merzbacher disease, null syndrome

2 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Nervous system disorder (231) Hereditary disease (176) Neurodegenerative disease (171) Central nervous system disorder (107) Human disease (14) Inherited neurodegenerative disorder (10) Pelizaeus-Merzbacher spectrum disorder (8) Hereditary neurological disease (6) Leukodystrophy (5)
Trials to join now! 1 Completed 1
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  • Massive leukodystrophy biobank aims to unlock disease secrets

    Knowledge-focused Recruiting now

    This study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…

    Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused

    Last updated Jun 27, 2026 07:55 UTC

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