Back to search results

CDH1-associated Blepharocheilodontic Syndrome Registry

This registry is collecting information about Blepharocheilodontic Syndrome (BCDS), a rare genetic condition that can cause cleft lip and/or palate, eyelid problems, and dental issues. Researchers want to better understand the features of BCDS and see if changes in the CDH1 gene linked to BCDS might also increase the risk of cancer. You may be able to join if you have a confirmed change in the CDH1 gene and have symptoms of BCDS. The study aims to gather a complete picture of BCDS over five years by enrolling about 100 participants. The current status of the study is unclear.

Study design
This is an observational study, meaning researchers will collect information without providing any specific treatments. The study plans to enroll about 100 participants.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
Participants will be characterized over a period of 5 years to understand the clinical features of BCDS.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT07133464

CDH1-associated Blepharocheilodontic Syndrome Registry

Recruiting
Not specifiedAll AgesObservational
Ohio State University
~100 participants
Updated 2025-08-21 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Comprehensive characterization of the clinical phenotype associated with CDH1-associated blepharocheilodontic syndrome (BCDS)
Measured over 5 years

Conditions

Blepharocheilodontic Syndrome

Explore related trials

Blepharocheilodontic syndromeCDH1 Gene

Where it's being run

1 sites across 1 states
Ohio1

Study leadership

  • Maegan E Roberts, MS · PRINCIPAL_INVESTIGATOR · Ohio State University

Who to contact

Maegan E Roberts, MS
[email protected]
614-814-1047
Email the study team

Opens a ready-to-send draft in your own email app — review before sending.

Do you actually qualify for this trial?

Add a private profile and we'll compare every criterion below against your situation — and tell you which ones are met, uncertain, or excluding.

Check eligibility for this trial ~2 min · HIPAA-protected · delete anytime
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)

What this trial measures

  • Comprehensive characterization of the clinical phenotype associated with CDH1-associated blepharocheilodontic syndrome (BCDS)5 years

    Reporting of currently known clinical characteristics of CDH1-associated Blepharocheilodontic Syndrome (BCDS), including but not limited to cleft lip and/or palate, eyelid anomalies, dental abnormalities, webbed toes, and imperforate anus. The study will also document additional clinical features that may not have been previously reported in the literature, with the goal of expanding the phenotypic understanding of this rare condition.