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临床试验/NCT01398397
NCT01398397已完成不适用

Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype

Edimer Pharmaceuticals1 个研究点 分布在 1 个国家目标入组 11 人开始时间: 2011年4月最近更新:
适应症

试验速览

阶段
不适用
状态
已完成
发起方
入组人数
11
试验地点
1

研究概览

简要总结

This study is being done to collect information about people who have or may have Hypohidrotic Ectodermal Dysplasia (HED) or X-linked Hypohidrotic Ectodermal Dysplasia (XLHED). This study will allow Edimer Pharmaceuticals to know more about HED/XLHED so that hopefully the investigators can develop a drug to treat this condition. In this study Edimer will retrospectively review and abstract (summarize) medical records of people that have or may have HED/XLHED in order to further understand the natural history and disease characteristics.

研究设计

研究类型
Observational
观察模型
Case Only
时间视角
Retrospective

入排标准

性别
All
接受健康志愿者

入选标准

  • Males or females with:
  • the clinical characteristics of HED, including at least two of the following characteristics: a history of decreased sweating;abnormal teeth (fewer permanent teeth, teeth are smaller than average and often have conical crowns);sparseness of scalp and body hair.
  • genetically confirmed HED or XLHED;

排除标准

  • 未提供

研究者

发起方
Edimer Pharmaceuticals
申办方类型
Industry
责任方
Sponsor

研究点 (1)

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