RecruitingNot Applicable

CDH1-associated Blepharocheilodontic Syndrome Registry

United States100 participantsStarted 2025-06-17

Plain-language 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 also increase cancer risk.

Who can participate

SexALL

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Inclusion Criteria: * 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 Criteria: • Non-English-speaking individuals

What they're measuring

Comprehensive characterization of the clinical phenotype associated with CDH1-associated blepharocheilodontic syndrome (BCDS)

Timeframe: 5 years

Trial details

NCT IDNCT07133464

SponsorOhio State University

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2040-01

Contact for this trial

Maegan E Roberts, MS

614-814-1047 maegan.roberts@osumc.edu

View on ClinicalTrials.gov More Blepharocheilodontic Syndrome trials