Cleidocranial Dysplasia (CCD): From Genotype to Phenotype and Considerations for Care
试验速览
- 阶段
- 不适用
- 状态
- Enrolling By Invitation
- 入组人数
- 300
- 试验地点
- 1
- 主要终点
- Presence of RUNX2 mutation
研究概览
简要总结
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Patient has molecular or clinical diagnosis of CCD
- •Caregiver or parent of patient with CCD.
排除标准
- •Patient does not have CCD
- •Patient over 18 but cannot consent for themselves
- •Not fluent in English.
结局指标
主要结局
Presence of RUNX2 mutation
时间窗: 3 years
identify the RUNX2 mutation in each participant
Phenotypic description of each patient with CCD
时间窗: 3 years
Physical exam, dental exam, medical history collection
次要结局
- Patient-reported health-related quality of life(3 years)
- 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)
- 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)