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

NCT05368064 · Status: ENROLLING_BY_INVITATION · Type: OBSERVATIONAL · Enrollment: 300

Last updated 2025-10-22

No results posted yet for this study

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

Interventions

OTHER

observational

collection of phenotype data

Sponsors & Collaborators

Principal Investigators

  • Ilana Ickow, DMD, MS · Johns Hopkins University

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2021-10-01
Primary Completion
2027-12-31
Completion
2028-12-31

Countries

  • United States

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05368064 on ClinicalTrials.gov