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Enrolling by Invitation

NCT Number: NCT05368064

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.

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Key information

Conditions

Cleidocranial Dysostosis Bone Diseases Bone Diseases, Developmental Cleidocranial Dysplasia Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Craniofacial Abnormalities Musculoskeletal Abnormalities Musculoskeletal Diseases Osteochondrodysplasias

Sex eligibility

All sexes

Study type

Observational

Primary location

Johns Hopkins University

Baltimore, Maryland, 21205, United States

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Observational

Other

collection of phenotype data

Primary outcomes

  1. Presence of RUNX2 mutation

    Time frame: 3 years

    identify the RUNX2 mutation in each participant

  2. Phenotypic description of each patient with CCD

    Time frame: 3 years

    Physical exam, dental exam, medical history collection

Secondary outcomes

  1. Patient financial stress quality of life score as assessed by the Comprehensive Score for Financial Toxicity-Functional Assessment of Chronic Illness Therapy (COST-FACIT)

    Time frame: 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.

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

    Time frame: 3 years

    FAN LTC (0 = not al all, 4 = very much)

  3. Patient-reported health-related quality of life

    Time frame: 3 years

    Quality of Life questionnaire (7 = delighted, 1 = terrible)

  4. Caregiver-reported quality of life of caregivers for patients with CCD

    Time frame: 3 years

    COST-FACIT (variable quality of numeric response 0-4); FAN LTC (0 = not at all, 4 = very much)

  5. Whole exome sequencing if RUNX2 molecular analysis negative for pathogenic variant

    Time frame: 3 years

    sequencing

Sponsors and collaborators

Lead sponsor

Johns Hopkins University

Other

Collaborators

  • Greenberg Center

Registry information

Important dates

Study start
2021
Primary completion
2027
Study completion
2028
First posted
May 10, 2022
Registry last updated
Oct 22, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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