Disease Directory Lipoid proteinosis
Rare Disease

Lipoid proteinosis

Type

Malformation syndrome

Gene

ECM1

About Lipoid proteinosis

Lipoid proteinosis is a rare disease catalogued by Orphanet (ORPHA:530). It is associated with the ECM1 gene. 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 Lipoid proteinosis trials.

Search ClinicalTrials.gov for "Lipoid proteinosis" or filter by Orphanet code ORPHA:530 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:530)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Lipoid proteinosis trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Lipoid proteinosis. Updated daily.