Disease Directory Adult Refsum disease
Rare Disease

Adult Refsum disease

Type

Disease

Gene

PHYH, PEX7

About Adult Refsum disease

Adult Refsum disease is a rare disease catalogued by Orphanet (ORPHA:773). It is associated with the PHYH, PEX7 genes. Search below for active recruiting clinical trials from ClinicalTrials.gov, or visit the Orphanet expert page for specialist centres, natural history studies, and patient registries.

Clinical Trial Eligibility Tips

What to know before applying to Adult Refsum disease trials.

Search ClinicalTrials.gov for "Adult Refsum disease" or filter by Orphanet code ORPHA:773 to find disease-specific studies.

Ask your specialist to refer you to a Centre of Expertise — Orphanet lists all accredited centres for this condition worldwide.

Natural history studies and patient registries often enrol before drug trials open — contact the Orphanet patient community first.

Patient Resources

Patient Organization

Orphanet

Visit website ↗

Orphanet

European reference resource for rare diseases (ORPHA:773)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Adult Refsum disease trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Adult Refsum disease. Updated daily.