CDH1-linked Blepharocheilodontic Syndrome Registry
Official title: CDH1-associated Blepharocheilodontic Syndrome Registry
Run by Ohio State University · NCT07133464 · Data updated 2026-11-12
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 |
|---|---|
| Sex | All |
| Enrollment | 100 (estimated) |
| Sponsor | Ohio State University Academic / other |
| Locations | 1 site (Columbus, Ohio) |
| Status | Recruiting |
| Started | June 17, 2025 |
| Main results expected | January 2040 |
| Study ends | January 2040 |
| Registry record updated | August 21, 2025 |
| Trial ID | NCT07133464 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a 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.
✕Probably 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.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: 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.
Who can join: the full rules
Show full inclusion / exclusion 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 it's running
-
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
- Email: maegan.roberts@osumc.edu
- Phone: 614-814-1047
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.