Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype

Completed

Conditions studied: Hypohidrotic Ectodermal Dysplasia, X-Linked Hypohidrotic Ectodermal Dysplasia

In brief

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.

Key facts

Study ID

NCT01398397

Run by

Edimer Pharmaceuticals

People needed

11

Starts

2011-04-01

Last updated by the study team

2012-06-28

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.
• OR-
• genetically confirmed HED or XLHED;

Where it is running

• Edimer Pharmaceuticals — Cambridge, Massachusetts, United States

Full record on ClinicalTrials.gov

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