Recruiting

Observational Study

Sponsor:

Ohio State University

Code:

NCT07133464

Conditions

Blepharocheilodontic Syndrome

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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 also increase cancer risk.

Conditions

Blepharocheilodontic Syndrome

Study ID

NCT07133464

Start date

Jun 17, 2025

Status verified date

Aug, 2025

Completion date

Jan, 2040

Anticipated

Primary completion date

Jan, 2040

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

100 participants

Anticipated

Interventions and Outcome Measures

Arms

Individuals identified as having a CDH1 variant and features of blepharocheilodontic syndrome

Primary outcome measure

  • Comprehensive characterization of the clinical phenotype associated with CDH1-associated blepharocheilodontic syndrome (BCDS) [ Time Frame: 5 years ]

Central Contacts and Locations

Central contacts

Maegan E Roberts, MS

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

Peter P Stanich, MD

614-814-1047peter.stanich@osumc.edu

Locations

The Ohio State University

Recruiting

Columbus, Ohio, United States, 43221

Contacts

Maegan E Roberts, MS

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

Peter P Stanich, MD

614-814-1047peter.stanich@osumc.edu

Principal Investigator:

Maegan E Roberts, MS

More Information

Sponsor

Ohio State University

Last update posted

Aug 21, 2025

Last verified

Aug, 2025

Keywords

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

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Ohio State University on 2025-08-21.