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Adult Refsum disease
MONDO:0009958A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.
Also known as: HMSN 4, HMSN type IV, HSMN IV, Refsum Disease, Refsum disease, Refsum disease, adult, 1, Refsum disease, classic, Refsum's disease
5 clinical trials for this condition and its sub-types, 4 tagged with Adult Refsum disease itself.
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Thousands join fight against blindness by sharing their stories
Knowledge-focused Recruiting nowThis registry collects information from people with inherited retinal diseases, like retinitis pigmentosa and Stargardt disease. Participants share their symptoms, family history, and genetic test results online. The goal is to help researchers understand these rare diseases and …
Sponsor: Foundation Fighting Blindness • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:36 UTC
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Researchers track rare metabolic disorders to unlock secrets
Knowledge-focused Recruiting nowThis study follows people with peroxisome biogenesis disorders (PBD) to learn more about how the disease progresses. Researchers will collect medical records, test results, and images over time from up to 244 participants. No new treatments are being tested; the goal is to better…
Sponsor: McGill University Health Centre/Research Institute of the McGill University Health Centre • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:03 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