Disease Directory Cowden syndrome
Rare Disease

Cowden syndrome

Type

Clinical subtype

Gene

PTEN, USF3, PIK3CA, SDHB, SDHD, SDHC

About Cowden syndrome

Cowden syndrome is a rare disease catalogued by Orphanet (ORPHA:201). It is associated with the PTEN, USF3, PIK3CA 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 Cowden syndrome trials.

Search ClinicalTrials.gov for "Cowden syndrome" or filter by Orphanet code ORPHA:201 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:201)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Cowden syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Cowden syndrome. Updated daily.