About Rare genetic disease
Rare genetic disease is a rare disease catalogued by Orphanet (ORPHA:98053). 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 Rare genetic disease trials.
Search ClinicalTrials.gov for "Rare genetic disease" or Orphanet code ORPHA:98053 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
Find recruiting Rare genetic disease trials
Search 500,000+ studies from ClinicalTrials.gov, filtered for Rare genetic disease. Updated daily.