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

NCT05368064 | Enrolling By Invitation

• 1 other identifier: IRB00246592
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

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.

Conditions

Cleidocranial Dysostosis

Outcome Measures

Primary Outcomes (2)

• 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 Outcomes (5)

• 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

• Patient-reported health-related quality of life as assessed by the FANLTC (Functional Assessment of Non-life-threatening conditions)

  3 years

• Patient-reported health-related quality of life

  3 years

• Caregiver-reported quality of life of caregivers for patients with CCD

  3 years

• Whole exome sequencing if RUNX2 molecular analysis negative for pathogenic variant

  3 years

Interventions

observational OTHER

collection of phenotype data

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

patients with clinical or molecular diagnosis of CCD

You may qualify if:

• Patient has molecular or clinical diagnosis of CCD
• Caregiver or parent of patient with CCD.

You may not qualify if:

• Patient does not have CCD
• Patient over 18 but cannot consent for themselves
• Not fluent in English.

Sponsors & Collaborators

• Johns Hopkins University: lead
• Greenberg Center: collaborator

Study Sites (1)

Johns Hopkins University

Baltimore, Maryland, 21205, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood or saliva

MeSH Terms

Conditions

Cleidocranial Dysplasia

Interventions

Watchful Waiting

Condition Hierarchy (Ancestors)

Osteochondrodysplasias; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Outcome Assessment, Health Care; Outcome and Process Assessment, Health Care; Quality of Health Care; Health Services Administration

Study Officials

• Ilana Ickow, DMD, MS

  Johns Hopkins University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 6, 2022
• First Posted: May 10, 2022
• Study Start: October 1, 2021
• Primary Completion (Estimated): December 31, 2027
• Study Completion (Estimated): December 31, 2028
• Last Updated: October 22, 2025

Record last verified: 2025-10

Locations

US (1)