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NCT05368064

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

ENROLLING BY INVITATION Last updated 22 October 2025
What this trial tests

trial testing observational in Cleidocranial Dysostosis in 300 participants. Enrolling by invitation.

Timeline
1 October 2021
Primary endpoint
31 December 2027
31 December 2028

Quick facts

Lead sponsorJohns Hopkins University
StatusENROLLING BY INVITATION
Study typeOBSERVATIONAL
Enrollment300
Start date1 October 2021
Primary completion31 December 2027
Estimated completion31 December 2028
Sites1 location across United States

Drugs / interventions tested

Conditions studied

Sponsor

Johns Hopkins University

Who can join

Eligibility, any sex, with Cleidocranial Dysostosis. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

No peer-reviewed publications indexed yet for this trial.

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Data sources for this page

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