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

Study Overview
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Brief Summary
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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.

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

Conditions
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Cleidocranial Dysostosis

Intervention / Treatment
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* Other: observational


Participation Criteria
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Eligibility Criteria
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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.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Other: observational|collection of phenotype data|

What is the study measuring?
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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 |
| --- | --- | --- |
| 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 as assessed by the FANLTC (Functional Assessment of Non-life-threatening conditions) | FAN LTC (0 = not al all, 4 = very much) | 3 years | 
| Patient-reported health-related quality of life | Quality of Life questionnaire (7 = delighted, 1 = terrible) | 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 | 
| Whole exome sequencing if RUNX2 molecular analysis negative for pathogenic variant | sequencing | 3 years |