CDH1-associated Blepharocheilodontic Syndrome Registry

Recruiting now

Conditions studied: Blepharocheilodontic Syndrome

In brief

The aim of the CDH1-associated Blepharocheilodontic Syndrome (BCDS) registry is to better characterize the clinical features of this condition and exploring whether CDH1 variants linked to BCDS may also increase cancer risk.

Key facts

Study ID

NCT07133464

Run by

Ohio State University

People needed

100

Starts

2025-06-17

Expected to finish

2040-01-01

Last updated by the study team

2025-08-21

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• A documented pathogenic, likely pathogenic or a variant of uncertain significance in the CDH1 gene
• Clinical features that are diagnostic for, or suggestive of, BCDS (cleft lip and/or palate, eyelid anomalies, dental abnormalities, webbed toes, imperforate anus, etc)

You may not qualify if…

• Non-English-speaking individuals

Where it is running

• The Ohio State University — Columbus, Ohio, United States (enrolling)

Full record on ClinicalTrials.gov

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