Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 150
- 试验地点
- 7
- 主要终点
- To assess clinical course of untreated XLHED individuals
研究概览
简要总结
The proposed natural history study will enroll male and female patients, ages 36 months and younger, who have a diagnosis of XLHED based on genetic testing and who have not received an investigational study drug. The study protocol will include collection of all relevant medical history and documentation of clinical outcomes using age-appropriate, minimally invasive technologies. Data will be collected both retrospectively, back to pregnancy assessments that may be available, and prospectively through age 5 yrs.
详细描述
Important to the development and regulatory approval of therapies for XLHED will be the collection of data on the clinical history and prospective health of those affected by XLHED. The proposed natural history study will enroll male and female patients, ages 36 months and younger, who have a diagnosis of XLHED based on genetic testing and who have not received an investigational study drug. The study protocol will include collection of all relevant medical history and documentation of clinical outcomes using age-appropriate, minimally invasive technologies. Data will be collected both retrospectively, back to pregnancy assessments that may be available, and prospectively through age 5 yrs. Genotype-phenotype correlations in XLHED, based on well-documented health records and prospective assessments on genetically-confirmed individuals, may now provide new and clinically-predictive information for the benefit of patients, families, health care providers and clinical investigators designing trials for therapeutic interventions.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- — 至 36 Months（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Subjects must meet all of the following criteria to be enrolled in this study:
- •Confirmed genetic diagnosis of XLHED
- •Written informed consent of both parents (if reasonably available)
排除标准
- •Subjects who meet any of the following criteria cannot be enrolled in this study:
- •Medically-significant complications or congenital anomalies outside of those considered to be associated with the diagnosis or status of XLHED
- •Having received an investigational study drug prior to enrollment. For subjects less than 6 months of age, the mother cannot have taken an investigational drug during her pregnancy.
- •Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists
- •Presence of pacemakers
结局指标
主要结局
To assess clinical course of untreated XLHED individuals
时间窗: Up to 5 years of life
To characterize the clinical course of untreated XLHED male and female subjects in early childhood, capturing data from physician and hospital records, medical history including growth and development, and family interviews.
To assess the phenotype of untreated XLHED individuals
时间窗: Up to 5 years of life
To characterize the phenotype of untreated XLHED male subjects and female in early childhood with endpoint assessments including sweat (males only), dentition, craniofacial development, pulmonary and ocular health.
次要结局
- To assess changes in endpoint assessments over time (growth and development)(Baseline and yearly up through 5 years of age)
- To assess changes in endpoint assessments over time (Mortality/Hospitalizations/Infections/Fevers/Heat Intolerance)(Baseline and yearly up through 5 years of age)
- To assess changes in endpoint assessments over time (sweat rate)(Baseline and yearly through 5 years of age)
- To assess changes in endpoint assessments over time (Dentition)(Baseline and yearly through 5 years of age)
- To assess changes in endpoint assessments over time (dry eye)(Baseline and yearly through 5 years of age)
- To assess changes in endpoint assessments over time (skin, hair and nail health)(Baseline through 5 years of age)
- To assess changes in endpoint assessments over time (respiratory health)(Baseline and yearly through 5 years of age)
- To assess changes in endpoint assessments over time (craniofacial development)(Baseline and yearly through 5 years of age)
- To assess genotype-phenotype correlation in XLHED affected individuals(Baseline through 5 years of age)