Disease Directory Down syndrome
Rare Disease

Down syndrome

Type

Malformation syndrome

About Down syndrome

Down syndrome is a rare disease catalogued by Orphanet (ORPHA:870). 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 worldwide.

Clinical Trial Eligibility Tips

What to know before applying to Down syndrome trials.

Search ClinicalTrials.gov for "Down syndrome" or Orphanet code ORPHA:870 to find disease-specific recruiting studies.

Ask your specialist to refer you to an Orphanet-accredited Centre of Expertise for this condition.

Natural history studies and patient registries often open enrolment before drug trials — contact the Orphanet patient community first.

Patient Resources

Patient Organization

Orphanet

Visit website ↗

Orphanet

European reference resource for rare diseases (ORPHA:870)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Down syndrome trials

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