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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New diagnostic strategy aims to end diagnostic odyssey for rare diseases
Diagnosis CompletedThis study tested a new approach to diagnose peroxisomal disorders, a group of rare genetic diseases. The strategy uses advanced metabolic and genetic tests to find the cause faster in people with suspicious symptoms or lab results. Researchers included 8 participants from four h…
Sponsor: University Hospital, Lille • Aim: Diagnosis
Last updated Jun 27, 2026 08:02 UTC
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Could a single DNA test solve the mystery of rare brain diseases in kids?
Knowledge-focused CompletedThis study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC