adult Refsum disease
MONDO:0009958
A peroxisomal disease associated with accumulation of phytanic acid in plasma and tissues, characterized by early-onset retinitis pigmentosa and variable combinations of anosmia, polyneuropathy, deafness, ataxia, ichthyosis, skeletal abnormalities, and cardiac arrhythmia.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
MONDO disease family
Recruiting studies by city
Trial status
Trial phase
Study start year
Investigated drug interventions
Refsum disease
Refsum disease is an autosomal recessive neurological disease that results in the over-accumulation of phytanic acid in cells and tissues. It is one of several disorders named after Norwegian neurologist Sigvald Bernhard Refsum (1907–1991). Refsum disease typically begins to show symptoms during adolescence, although symptoms may first appear anywhere between infancy and old age. Refsum disease is definitively diagnosed by lab tests showing above average serum levels of phytanic acid, or through genetic testing.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.