Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype

NCT ID: NCT01398397

Last Updated: 2012-06-28

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

11 participants

Study Classification

OBSERVATIONAL

Study Start Date

2011-04-30

Brief Summary

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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.

Detailed Description

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Conditions

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Hypohidrotic Ectodermal Dysplasia X-Linked Hypohidrotic Ectodermal Dysplasia

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

RETROSPECTIVE

Eligibility Criteria

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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.

-OR-
2. genetically confirmed HED or XLHED;
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Foundation of Ectodermal Dysplasia

UNKNOWN

Sponsor Role collaborator

Edimer Pharmaceuticals

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Edimer Pharmaceuticals

Cambridge, Massachusetts, United States

Site Status

Countries

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United States

Other Identifiers

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ECP-006

Identifier Type: -

Identifier Source: org_study_id

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