Status:
RECRUITING
CDH1-associated Blepharocheilodontic Syndrome Registry
Lead Sponsor:
Ohio State University
Conditions:
Blepharocheilodontic Syndrome
Eligibility:
All Genders
Brief Summary
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 al...
Detailed Description
Blepharocheilodontic Syndrome (BCDS) is a rare genetic disorder characterized by cleft lip and/or palate (CL/P), eyelid malformations, and features suggestive of ectodermal dysplasia. Variants in the ...
Eligibility Criteria
Inclusion
- 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)
Exclusion
- • Non-English-speaking individuals
Key Trial Info
Start Date :
June 17 2025
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
January 1 2040
Estimated Enrollment :
100 Patients enrolled
Trial Details
Trial ID
NCT07133464
Start Date
June 17 2025
End Date
January 1 2040
Last Update
August 21 2025
Active Locations (1)
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1
The Ohio State University
Columbus, Ohio, United States, 43221