Disease Directory Infantile Refsum disease
Rare Disease

Infantile Refsum disease

Type

Disease

Gene

PEX2, PEX1, PEX10, PEX12, PEX13, PEX14

About Infantile Refsum disease

Infantile Refsum disease is a rare disease catalogued by Orphanet (ORPHA:772). It is associated with the PEX2, PEX1, PEX10 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 Infantile Refsum disease trials.

Search ClinicalTrials.gov for "Infantile Refsum disease" or filter by Orphanet code ORPHA:772 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:772)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Infantile Refsum disease trials

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