Disease Directory Li-Fraumeni syndrome
Rare Disease

Li-Fraumeni syndrome

Type

Disease

Gene

CDKN2A, MDM2, TP53, CHEK2

About Li-Fraumeni syndrome

Li-Fraumeni syndrome is a rare disease catalogued by Orphanet (ORPHA:524). It is associated with the CDKN2A, MDM2, TP53 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 Li-Fraumeni syndrome trials.

Search ClinicalTrials.gov for "Li-Fraumeni syndrome" or filter by Orphanet code ORPHA:524 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:524)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Li-Fraumeni syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Li-Fraumeni syndrome. Updated daily.