Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 27
- 试验地点
- 1
- 主要终点
- To assess the pilocarpine-stimulated sweat rate on the volar surface of the forearm following pilocarpine iontophoresis in HED/XLHED males and unaffected controls, and to correlate with heat-stimulated sweat test classification
研究概览
简要总结
The overall purpose of this study is to learn more about Hypohidrotic Ectodermal Dysplasia (HED) and to help in identifying treatment opportunities. Several evaluations will be conducted in this study: 1) the number of skin sweat glands you have and their ability to produce sweat; 2) your ability to grow hair; 3) the structure of your face compared to faces of people affected by HED; 4) molds of your teeth to see if and how they are different than people affected by HED.
研究设计
- 研究类型
- Observational
入排标准
- 年龄范围
- 14 Years 至 29 Years（Child, Adult）
- 性别
- Male
- 接受健康志愿者
- 是
入选标准
- •Males age 14-29 years with clinical diagnosis of HED
- •No scalp shaving in the 6 months prior to enrollment
- •No current medical therapy for hair loss
- •Written informed consent for study and genotyping (or signed medical release of previous genetic test results)
排除标准
- •Medically significant condition as determined by the PI
- •Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists (e.g. Urecholine, Salagen, Pilocar, Provocholine)
- •Presence of cardiac pacemaker
结局指标
主要结局
To assess the pilocarpine-stimulated sweat rate on the volar surface of the forearm following pilocarpine iontophoresis in HED/XLHED males and unaffected controls, and to correlate with heat-stimulated sweat test classification
时间窗: Day 1
To assess the hair follicle density and percent anagen hairs in the scalp of HED/XLHED males and unaffected controls
时间窗: Day 1 and Day 3-4
To assess the palmar sweat duct number using confocal microscopy in HED/XLHED males and unaffected controls
时间窗: Day 1
To evaluate 3-dimensional imaging technology without radiation exposure for mapping craniofacial development in HED/XLHED males and unaffected controls
时间窗: Day 1
To use teeth impressions to construct 3-dimensional dental models for detailed evaluation of abnormalities present in HED/XLHED males (not for controls)
时间窗: Day 1
To determine the presence or absence of EDA gene mutations/deletions in males with a clinical diagnosis of HED (not for controls)
时间窗: Day 1
To assess by medical history the prevalence of medical complications in HED/XLHED males and unaffected controls
时间窗: Day 1
次要结局
未报告次要终点