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

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.

Study Overview

• Status: Enrolling by invitation
• Conditions: Cleidocranial Dysostosis
• Intervention / Treatment: Other: observational

• Study Type: Observational
• Enrollment (Estimated): 300

Contacts and Locations

Study Locations

• United States
  • Maryland
    • Baltimore, Maryland, United States, 21205
      • Johns Hopkins University

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

patients with clinical or molecular diagnosis of CCD

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Cross-Sectional

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Whole exome sequencing if RUNX2 molecular analysis negative for pathogenic variant	sequencing	3 years
Patient financial stress quality of life score as assessed by the Comprehensive Score for Financial Toxicity-Functional Assessment of Chronic Illness Therapy (COST-FACIT)	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.	3 years
Patient-reported health-related quality of life	Quality of Life questionnaire (7 = delighted, 1 = terrible)	3 years
Patient-reported health-related quality of life as assessed by the FANLTC (Functional Assessment of Non-life-threatening conditions)	FAN LTC (0 = not al all, 4 = very much)	3 years
Caregiver-reported quality of life of caregivers for patients with CCD	COST-FACIT (variable quality of numeric response 0-4); FAN LTC (0 = not at all, 4 = very much)	3 years

Collaborators and Investigators

• Sponsor: Johns Hopkins University
• Collaborators: Greenberg Center
• Investigators: Principal Investigator: Ilana Ickow, DMD, MS, Johns Hopkins University

Study record dates

Study Major Dates

• Study Start (Actual): October 1, 2021
• Primary Completion (Estimated): December 31, 2027
• Study Completion (Estimated): December 31, 2028

Study Registration Dates

• First Submitted: May 6, 2022
• First Submitted That Met QC Criteria: May 6, 2022
• First Posted (Actual): May 10, 2022

Study Record Updates

• Last Update Posted (Estimated): October 22, 2025
• Last Update Submitted That Met QC Criteria: October 20, 2025
• Last Verified: October 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Bone Diseases; Musculoskeletal Diseases; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Congenital Abnormalities; Osteochondrodysplasias; Bone Diseases, Developmental; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cleidocranial Dysplasia; Health Services Administration; Quality of Health Care; Outcome Assessment, Health Care; Outcome and Process Assessment, Health Care; Watchful Waiting
• Other Study ID Numbers: IRB00246592

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No