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

• Conditions: Cleidocranial Dysostosis

• Registration Number: NCT05368064
• Lead Sponsor: Johns Hopkins University

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2021-10-01
• Study First Submitted: 2022-05-06
• Study First Submitted QC: 2022-05-06
• Study First Posted: 2022-05-10
• Status Verified: 2025-10
• Last Update Submitted: 2025-10-20
• Last Update Posted: 2025-10-22
• Primary Completion: 2027-12-31
• Study Completion: 2028-12-31

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: All
• Target Recruitment: 300

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Presence of RUNX2 mutation	3 years	identify the RUNX2 mutation in each participant
Phenotypic description of each patient with CCD	3 years	Physical exam, dental exam, medical history collection

Secondary Outcome Measures

Name	Time	Method
Patient-reported health-related quality of life	3 years	Quality of Life questionnaire (7 = delighted, 1 = terrible)
Patient financial stress quality of life score as assessed by the Comprehensive Score for Financial Toxicity-Functional Assessment of Chronic Illness Therapy (COST-FACIT)	3 years	Comprehensive Score for Financial Toxicity-Functional Assessment of Chronic Illness Therapy (COST-FACIT) will be used to assess financial quality of life stress; numeric response 0-4; Score range 0-44 with higher scores indicating better Financial Well-Being.
Patient-reported health-related quality of life as assessed by the FANLTC (Functional Assessment of Non-life-threatening conditions)	3 years	FAN LTC (0 = not al all, 4 = very much)
Caregiver-reported quality of life of caregivers for patients with CCD	3 years	COST-FACIT (variable quality of numeric response 0-4); FAN LTC (0 = not at all, 4 = very much)
Whole exome sequencing if RUNX2 molecular analysis negative for pathogenic variant	3 years	sequencing

Trial Locations

Locations (1)

Johns Hopkins University; 🇺🇸 Baltimore, Maryland, United States