Phenotype/Genotype Correlation in a Family With Early Onset Osteoarthritis: Contribution of Genetic in the Diagnosis and Early Management of Patients.
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 5
- 试验地点
- 1
- 主要终点
- Identification of new gene mutations associated with early onset of osteoarthritis using NGS (Next Generation Sequencing)
研究概览
简要总结
This study will investigate the genes responsible for osteoarthritis. Individuals with osteoarthritis known or suspected to be caused by a gene mutation (change) may be eligible for this study. Family members may also participate.
Patients will talk with investigators who will explain the study and its possible implications for the patient and family and answer questions. The patient's medical records will be reviewed, a personal and family history will be taken, and a physical examination will be done. Two procedures may be done including blood sampling (which will be used for DNA (genetic) studies) and X-rays (to define osteoarthritis grade).
If no known mutations responsible for osteoarthritis will be detected, participating family members will be interviewed by telephone about their personal and family health history and will have a blood sample drawn for DNA testing, and X-rays.
详细描述
We will investigate the clinical manifestations and molecular genetic defects of human osteoarthritis. Families with osteoarthritis of known or suspected genetic basis will be enrolled. Individuals will undergo clinical assessment and genetic analyses for the purpose of: 1) definition and characterization of phenotype, 2) determination of the natural history of the disorder, and 3) genotype/phenotype correlation. Genetic linkage studies may be performed for disorders in which the genetic bases is not yet known.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Individuals (and family members) with early onset osteoarthritis according to the following definition:
- •symptomatic OA before 50 years old
- •no obvious causes of OA (IMC > 30, dysplasia,joint traumas)
- •at least three OA locations
排除标准
- •Individuals younger than 18 years old.
结局指标
主要结局
Identification of new gene mutations associated with early onset of osteoarthritis using NGS (Next Generation Sequencing)
时间窗: time of inclusion = Day 0
Clinical, genetic and imaging factors of osteoarthritis
次要结局
未报告次要终点