CDH1-linked Blepharocheilodontic Syndrome Registry

CDH1-associated Blepharocheilodontic Syndrome Registry

This registry will see if collecting health and genetic information from people with CDH1 variants and Blepharocheilodontic Syndrome (BCDS) clarifies their clinical features and possible cancer risks.

Quick facts

• Study type: Observational
• Enrollment: 100 (estimated)
• Sex: All
• Sponsor: Ohio State University (Academic / other)
• Locations: 1 site (Columbus, Ohio)
• Trial ID: NCT07133464 on ClinicalTrials.gov

What this trial studies

Researchers at The Ohio State University are enrolling people who have a pathogenic, likely pathogenic, or uncertain CDH1 variant and clinical features of BCDS to collect detailed clinical, genetic, and family-history data. The registry compiles medical records, genetic test results, and phenotype descriptions to better define the BCDS spectrum and to examine signals of increased cancer risk in carriers of CDH1 variants observed in BCDS. Previous work has identified missense and splice-site CDH1 variants in BCDS that differ from the truncating variants linked to hereditary diffuse gastric and lobular breast cancer, and this registry aims to place those observations in a larger, systematically collected cohort. Enrollment and data coordination are based at a single site at The Ohio State University.

Who should consider this trial

Good fit: Ideal candidates are English-speaking individuals with a documented pathogenic, likely pathogenic, or variant of uncertain significance in CDH1 and clinical features diagnostic for or suggestive of BCDS.

Not a fit: People without CDH1 variants, those whose clinical features are explained by other diagnoses, or non-English-speaking individuals excluded by the protocol are unlikely to receive direct benefit from participation.

Why it matters

Potential benefit: If successful, the registry could improve genetic counseling and cancer surveillance recommendations for people with CDH1-related BCDS.

How similar studies have performed: Systematic phenotype–genotype registries for rare genetic conditions have been useful in clarifying risks and management, and although prior case reports and expert-panel data suggested limited cancer risk from BCDS-associated CDH1 missense variants, comprehensive registry data for this group remain novel.

Eligibility criteria

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

Where this trial is running

Columbus, Ohio

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

Study contacts

• Principal investigator: Maegan E Roberts, MS — Ohio State University
• Study coordinator: Maegan E Roberts, MS

Conditions Blepharocheilodontic Syndrome; CDH1; Blepharocheilodontic; BCDS; CDH1-associated Blepharocheilodontic Syndrome; ectodermal dysplasia; cleft lip and palate; eyelid malformations