Disease Directory X-linked recessive ocular albinism
Rare Disease

X-linked recessive ocular albinism

Type

Disease

Gene

AP3D1, GPR143

About X-linked recessive ocular albinism

X-linked recessive ocular albinism is a rare disease catalogued by Orphanet (ORPHA:54). It is associated with the AP3D1, GPR143 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 X-linked recessive ocular albinism trials.

Search ClinicalTrials.gov for "X-linked recessive ocular albinism" or filter by Orphanet code ORPHA:54 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:54)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting X-linked recessive ocular albinism trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for X-linked recessive ocular albinism. Updated daily.