NCT05368064

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

• Status: Enrolling By Invitation
• Phase: —
• Study type: Observational
• Enrollment: 300 (estimated)
• Sponsor: Johns Hopkins University · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Accepted

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

Type	Name	Description
OTHER	observational	collection of phenotype data

Timeline

• Start date: 2021-10-01
• Primary completion: 2027-12-31
• Completion: 2028-12-31
• First posted: 2022-05-10
• Last updated: 2025-10-22

Locations

1 site across 1 country: United States