About Joubert syndrome with ocular defect
Joubert syndrome with ocular defect is a rare disease catalogued by Orphanet (ORPHA:220493). It is associated with the AHI1, MKS1, INPP5E 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 Joubert syndrome with ocular defect trials.
Search ClinicalTrials.gov for "Joubert syndrome with ocular defect" or filter by Orphanet code ORPHA:220493 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
Find recruiting Joubert syndrome with ocular defect trials
Search 500,000+ studies from ClinicalTrials.gov, filtered for Joubert syndrome with ocular defect. Updated daily.