Cleidocranial Dysplasia (CCD): From Genotype to Phenotype and Considerations for Care

NCT ID: NCT05368064

Last Updated: 2025-10-22

Basic Information

• Recruitment Status: ENROLLING_BY_INVITATION
• Total Enrollment: 300 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2021-10-01
• Study Completion Date: 2028-12-31

Brief Summary

Cleidocranial Dysplasia (CCD) is a rare, autosomal dominant disorder characterized by dysplasia of bones and teeth. Given the rarity of this condition (prevalence of 1 in 1,000,000), the variable phenotype and lack of correlation to specific genotypes, coordinated clinical research is needed to better understand CCD. The purpose of this project is to: investigate the genetic makeup and phenotypic expression of CCD, understand the quality of life for patients with this diagnosis, and further identify the multidimensional healthcare needs of these patients. Participation involves completion of a survey to ascertain medical history and quality of life, a physical exam and research whole exome sequencing from a blood or saliva sample. The goal of this research is to elucidate critical pathways in skeletal and dental development and improve quality of life for CCD patients through the standardization and optimization of timely diagnosis and multidisciplinary care.

Conditions

Cleidocranial Dysostosis

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: CROSS_SECTIONAL

Interventions

observational

collection of phenotype data

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• Patient has molecular or clinical diagnosis of CCD
• Caregiver or parent of patient with CCD.

Exclusion Criteria

• Patient does not have CCD
• Patient over 18 but cannot consent for themselves
• Not fluent in English.

• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Greenberg Center

UNKNOWN

Sponsor Role: collaborator

Johns Hopkins University

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Ilana Ickow, DMD, MS

Role: PRINCIPAL_INVESTIGATOR

Johns Hopkins University

Locations

Johns Hopkins University

Baltimore, Maryland, United States

Countries

United States

Other Identifiers

IRB00246592

Identifier Type: -

Identifier Source: org_study_id