RECRUITING

CDH1-associated Blepharocheilodontic Syndrome Registry

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Conditions

Blepharocheilodontic SyndromeCDH1BlepharocheilodonticBCDSCDH1-associated Blepharocheilodontic Syndromeectodermal dysplasiacleft lip and palateeyelid malformations

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

CDH1-associated Blepharocheilodontic Syndrome Registry

Quick Facts

Study Start:2025-06-17
Study Completion:2040-01
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT07133464

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * A documented pathogenic, likely pathogenic or a variant of uncertain significance in the CDH1 gene
  2. * Clinical features that are diagnostic for, or suggestive of, BCDS (cleft lip and/or palate, eyelid anomalies, dental abnormalities, webbed toes, imperforate anus, etc)
  1. Pregnancy or breastfeeding
  2. Severe psychiatric disorders
  3. Active substance abuse
  4. Unstable medical conditions
  5. Inability to comply with study requirements

Contacts and Locations

Study Contact

Maegan E Roberts, MS
CONTACT
614-814-1047
maegan.roberts@osumc.edu
Peter P Stanich, MD
CONTACT
614-814-1047
peter.stanich@osumc.edu

Principal Investigator

Maegan E Roberts, MS
PRINCIPAL_INVESTIGATOR
Ohio State University

Study Locations (Sites)

The Ohio State University
Columbus, Ohio, 43221
United States

Collaborators and Investigators

Sponsor: Ohio State University

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

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2025-06-17
Study Completion Date2040-01

Study Record Updates

Study Start Date2025-06-17
Study Completion Date2040-01

Terms related to this study

Keywords Provided by Researchers

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

Additional Relevant MeSH Terms

  • Blepharocheilodontic Syndrome