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

Sponsor
Johns Hopkins University (Other)
Overall Status
Enrolling by invitation
CT.gov ID
NCT05368064
Collaborator
(none)
300
Enrollment
1
Location
63
Anticipated Duration (Months)
4.8
Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease Intervention/Treatment Phase

    Study Design

    Study Type:
    Observational
    Anticipated Enrollment :
    300 participants
    Observational Model:
    Cohort
    Time Perspective:
    Cross-Sectional
    Official Title:
    Cleidocranial Dysplasia (CCD): From Genotype to Phenotype and Considerations for Care
    Actual Study Start Date :
    Oct 1, 2021
    Anticipated Primary Completion Date :
    Dec 31, 2024
    Anticipated Study Completion Date :
    Dec 31, 2026

    Outcome Measures

    Primary Outcome Measures

    1. Presence of RUNX2 mutation [3 years]

      identify the RUNX2 mutation in each participant

    2. Phenotypic description of each patient with CCD [3 years]

      Physical exam, dental exam, medical history collection

    Secondary Outcome Measures

    1. Patient-reported health-related quality of life of people with a diagnosis of CCD [3 years]

      questionnaire

    2. Caregiver-reported quality of life of caregivers for patients with CCD [3 years]

      questionnaire

    3. Whole exome sequencing if RUNX2 molecular analysis negative for pathogenic variant [3 years]

      sequencing

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    Yes
    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.

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Johns Hopkins University Baltimore Maryland United States 21205

    Sponsors and Collaborators

    • Johns Hopkins University

    Investigators

    • Principal Investigator: Ilana Ickow, DMD, MS, Johns Hopkins University

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Johns Hopkins University
    ClinicalTrials.gov Identifier:
    NCT05368064
    Other Study ID Numbers:
    • IRB00246592
    First Posted:
    May 10, 2022
    Last Update Posted:
    May 10, 2022
    Last Verified:
    May 1, 2022
    Individual Participant Data (IPD) Sharing Statement:
    Undecided
    Plan to Share IPD:
    Undecided
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Additional relevant MeSH terms:
    Dysostoses
    Cleidocranial Dysplasia

    Study Results

    No Results Posted as of May 10, 2022