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

Conditions

• Cleidocranial Dysostosis

Eligibility Criteria

Sex

ALL

Age

N/A - N/A

Healthy Volunteers

Accepted

Interventions

• observational — OTHER
  collection of phenotype data

Study Details

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.

Key Dates

Start date

Oct 1, 2021

Status verified

Oct 2025

Primary completion

Dec 31, 2027

Completion

Dec 31, 2028

Study Design

Enrollment

300 participants (estimated)

Primary Outcome Measure

Presence of RUNX2 mutation [ Time Frame: 3 years ]

Locations (1)

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