Trials Sponsors Conditions Drugs Pricing

Conditions

Ectodermal Dysplasia

Keywords

HEDXLHEDHypohidrotic Ectodermal Dysplasia

Outcome Measures

Primary Outcomes (1)

Characterization of skin properties in HED affected male subjects compared with healthy controls
The primary objective of this descriptive study is to use skin assessment techniques to characterize skin properties in male subjects affected by HED compared with healthy controls including determination of the number of sweat glands and the rate of sweating.
Two assessments conducted once during study day.

Secondary Outcomes (2)

Collecting demographic information and clinical status in male subjects affected by HED using a medical questionnaire.
Collected once during study day.
Testing for the presence of ectodysplasin A (EDA) gene mutations in a subset of subjects enrolled in this study.
Collected once during study day.

Study Arms (2)

HED affected males

Unaffected male controls

Eligibility Criteria

Age1 Year+

Sexmale

Healthy VolunteersYes

Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

Sampling MethodNon-Probability Sample

Study Population

Male subjects with HED or unaffected controls

You may qualify if:

Registered and attending the 2010 NFED Family Conference;

Sponsors & Collaborators

Edimer Pharmaceuticals
Industrylead

Study Sites (1)

Cheyenne Mountain Resort

Colorado Springs, Colorado, 80906, United States

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples

MeSH Terms

Conditions

Ectodermal DysplasiaEctodermal Dysplasia 1, Anhidrotic

Condition Hierarchy (Ancestors)

Abnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin AbnormalitiesSkin Diseases, GeneticGenetic Diseases, InbornSkin DiseasesSkin and Connective Tissue DiseasesGenetic Diseases, X-Linked

Study Officials

Dorothy K Grange, MD
Washington University School of Medicine
PRINCIPAL INVESTIGATOR

Enrollment

62 participants (actual enrollment reported by the registry).

Study Design

Study Type: observational
Sponsor Type: INDUSTRY
Responsible Party: SPONSOR

Study Record Dates

First Submitted

April 21, 2010

First Posted

April 22, 2010

Study Start

July 2010

Date type not reported

This date has not been verified as actual or estimated.

Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

First Submitted

First Posted

Study Start

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Secondary Outcomes (2)

Study Arms (2)

HED affected males

Unaffected male controls

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

Biospecimen

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Source record

Locations

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

First Submitted

First Posted

Study Start

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Secondary Outcomes (2)

Study Arms (2)

HED affected males

Unaffected male controls

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

Biospecimen

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Source record

Locations