Disease Directory Knobloch syndrome
Rare Disease

Knobloch syndrome

Type

Malformation syndrome

Gene

PAK2, COL18A1

About Knobloch syndrome

Knobloch syndrome is a rare disease catalogued by Orphanet (ORPHA:1571). It is associated with the PAK2, COL18A1 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 Knobloch syndrome trials.

Search ClinicalTrials.gov for "Knobloch syndrome" or filter by Orphanet code ORPHA:1571 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

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Orphanet

European reference resource for rare diseases (ORPHA:1571)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Knobloch syndrome trials

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