Cleidocranial Dysplasia (CCD): From Genotype to Phenotype and Considerations for Care
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: observational.
- Who it may be relevant to
- Registry conditions: Cleidocranial Dysostosis. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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.
Interventions
- Other observational
collection of phenotype data
Primary outcome measures
- Presence of RUNX2 mutation [Time frame: 3 years]
- Phenotypic description of each patient with CCD [Time frame: 3 years]
Secondary outcome measures (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) [Time frame: 3 years]
- Patient-reported health-related quality of life as assessed by the FANLTC (Functional Assessment of Non-life-threatening conditions) [Time frame: 3 years]
- Patient-reported health-related quality of life [Time frame: 3 years]
- Caregiver-reported quality of life of caregivers for patients with CCD [Time frame: 3 years]
- Whole exome sequencing if RUNX2 molecular analysis negative for pathogenic variant [Time frame: 3 years]
Eligibility criteria
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
United States · 1 center
- Johns Hopkins University — Baltimore
Identifiers
NCT: NCT05368064 · IRB00246592