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Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype (ECP-006)

This study has been completed.
National Foundation of Ectodermal Dysplasia
Information provided by (Responsible Party):
Edimer Pharmaceuticals Identifier:
First received: July 19, 2011
Last updated: June 26, 2012
Last verified: June 2012
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.

Hypohidrotic Ectodermal Dysplasia X-Linked Hypohidrotic Ectodermal Dysplasia

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype

Resource links provided by NLM:

Further study details as provided by Edimer Pharmaceuticals:

Enrollment: 11
Study Start Date: April 2011

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
The study will enroll up to fifty HED/XLHED affected individuals.

Inclusion Criteria:

-Males or females with:

  1. 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.


  2. genetically confirmed HED or XLHED;
  Contacts and Locations
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Please refer to this study by its identifier: NCT01398397

United States, Massachusetts
Edimer Pharmaceuticals
Cambridge, Massachusetts, United States, 02142
Sponsors and Collaborators
Edimer Pharmaceuticals
National Foundation of Ectodermal Dysplasia
  More Information

Responsible Party: Edimer Pharmaceuticals Identifier: NCT01398397     History of Changes
Other Study ID Numbers: ECP-006
Study First Received: July 19, 2011
Last Updated: June 26, 2012

Keywords provided by Edimer Pharmaceuticals:
X-linked Hypohidrotic Ectodermal Dysplasia (XLHED)

Additional relevant MeSH terms:
Ectodermal Dysplasia
Ectodermal Dysplasia 1, Anhidrotic
Pathologic Processes
Abnormalities, Multiple
Congenital Abnormalities
Skin Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases
Genetic Diseases, X-Linked processed this record on September 21, 2017