Global Registry for Inherited Neuropathies Natural History Study for Charcot Marie Tooth Disease
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 10,000
- 试验地点
- 2
- 主要终点
- Identify the type of CMT
研究概览
简要总结
The goal of this Natural History Study for Charcot-Marie-Tooth is to acquire, record, and analyze patient-reported data and associated genetic reports, Electronic Health Records (EHRs) and clinical notes to identify the burden, diagnostic journey, and prevalence of disease that will aid scientists in their work toward finding a cure.
Participants will be asked to complete a Natural History Survey.
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
- 否
入选标准
- •Patients will be made aware of the study by HNF and others (referenced above) and invited to participate. Once patients have reviewed and signed electronically the informed consent document, it is attached to their file.
- •All affected individuals with CMT/IN are eligible to participate in GRIN with proper informed consent.
- •Children, adolescents and adults with either a confirmed diagnosis or suspected to have CMT/IN are eligible with parent and/or guardian consent.
- •Individuals that have been clinically diagnosed through family history and/or standard clinical testing (e.g. neuro exam, EMG, NCS) and/or genetically tested or suspected to have CMT/IN (note: many mutations have not been identified yet) are eligible.
排除标准
- •People that do not have Charcot-Marie-Tooth or other Inherited Neuropathies
结局指标
主要结局
Identify the type of CMT
时间窗: 156 weeks
Patient-Reported Outcomes depending on individual experience I.e. Genetic testing, clinical observation, EMG, family history.
Impact of symptoms on Activities of Daily Living
时间窗: 156 weeks
Patient-Reported Observations
Disease Symptoms
时间窗: 156 weeks
Patient-Reported Observations
Associated Comorbidities
时间窗: 156 weeks
Patient-Reported Observations
次要结局
未报告次要终点