Adult-onset autosomal dominant demyelinating leukodystrophy
MONDO:0008215A rare, slowly progressive neurological disorder involving central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment.
Also known as: ADLD, adult-onset autosomal dominant demyelinating leukodystrophy, adult-onset autosomal dominant leukodystrophy, leukodystrophy, adult-onset, autosomal dominant, Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type, Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type, formerly, autosomal dominant adult-onset demyelinating leukodystrophy, autosomal dominant leukodystrophy with autonomic disease
4 clinical trials for this condition and its sub-types.
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Broader categories
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Scientists hunt for 'Modifier Genes' that could explain why some LMNA patients fare better than others
Knowledge-focused Recruiting nowThis study aims to identify genetic factors that affect how severe muscle and heart problems become in people with LMNA gene mutations. Researchers will collect skin and muscle samples from 40 participants and use advanced DNA and RNA analysis to look for protective or aggravatin…
Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:10 UTC
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Massive leukodystrophy biobank aims to unlock disease secrets
Knowledge-focused Recruiting nowThis 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