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

Primary Purpose

Ectodermal Dysplasia

Status

Completed

Phase

Locations

United States

Study Type

Observational

Intervention

About this trial

This is an observational trial for Ectodermal Dysplasia focused on measuring HED, XLHED, Hypohidrotic Ectodermal Dysplasia

Eligibility Criteria

1 Year - undefined (Child, Adult, Older Adult)MaleAccepts Healthy Volunteers

Inclusion Criteria:

Registered and attending the 2010 NFED Family Conference;
One year of age or greater;
Conform to one of the following requirements for providing informed consent:
- if more than 18 years of age, subjects must provide signed informed consent;
- if less than 18 years of age and it is determined that the subject is capable of providing assent, both the assent of the subject and consent of the parent(s) or guardian of that subject must be granted. Under this condition, both parents of the subject should give their permission, unless 1 parent is deceased, unknown, incompetent, or not available;
- if the subject is incapable of providing assent, the consent of the parent(s) or guardian of the subject must be granted. Under this condition, both parents should give their consent, unless 1 parent is deceased, unknown, incompetent, or not available.
Subjects must meet one of the following criteria:
- Male subjects of original gender with the clinical characteristics of HED, including at least a history of decreased sweating and either abnormal teeth (fewer permanent teeth, teeth are smaller than average and often have conical crowns), and/or sparseness of scalp and body hair;
- Healthy male controls, i.e. either unaffected male family members or unaffected male volunteers.

Exclusion Criteria:

Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists.
Presence of pacemakers.
Subjects who are not able or are not willing to comply with the procedures of this protocol.
Subjects with any major medical problem that will prevent them from participating in this study.

Sites / Locations

Cheyenne Mountain Resort

Arms of the Study

Arm 1

Arm 2

Arm Type

Arm Label

HED affected males

Unaffected male controls

Arm Description

Outcomes

Primary Outcome Measures

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.

Secondary Outcome Measures

Collecting demographic information and clinical status in male subjects affected by HED using a medical questionnaire.

Testing for the presence of ectodysplasin A (EDA) gene mutations in a subset of subjects enrolled in this study.

Full Information

NCT ID

NCT01108770

First Posted

April 21, 2010

Last Updated

August 20, 2012

Sponsor

Edimer Pharmaceuticals

1. Study Identification

Unique Protocol Identification Number

NCT01108770

Brief Title

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

Official Title

Evaluation of Phenotypic and Genetic Properties in Male Subjects With Hypohidrotic Ectodermal Dysplasia and Their Family Members

Study Type

Observational

2. Study Status

Record Verification Date

August 2012

Overall Recruitment Status

Completed

Study Start Date

July 2010 (undefined)

Primary Completion Date

July 2010 (Actual)

Study Completion Date

October 2010 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title

Sponsor

Name of the Sponsor

Edimer Pharmaceuticals

4. Oversight

Data Monitoring Committee

5. Study Description

Brief Summary

To characterize skin properties in male subjects with HED

Detailed Description

This study is designed to obtain information from male subjects with HED and unaffected male control subjects. The study will consist of the standardized collection of data from HED medical history questionnaires and non-invasive tests. A subset of subjects will undergo genetic testing. All data will be collected from families attending the 2010 NFED Family Conference, July 22-24, 2010, in Colorado Springs, CO. Since HED is a rare disease, it is difficult to obtain reliable data on a sufficient number of subjects in any one region. The NFED Family Conference is a location where families affected with HED come together, and therefore, presents an ideal location to obtain data needed to design future studies. As the procedures are non-invasive and are designed to take a relatively short period of time, subjects can participate in this study while attending the NFED Family Conference.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study

Ectodermal Dysplasia

Keywords

HED, XLHED, Hypohidrotic Ectodermal Dysplasia

7. Study Design

Enrollment

62 (Actual)

Biospecimen Retention

Samples With DNA

Biospecimen Description

Blood samples

8. Arms, Groups, and Interventions

Arm Title

HED affected males

Arm Title

Unaffected male controls

Primary Outcome Measure Information:

Title

Characterization of skin properties in HED affected male subjects compared with healthy controls

Description

Time Frame

Two assessments conducted once during study day.

Secondary Outcome Measure Information:

Title

Collecting demographic information and clinical status in male subjects affected by HED using a medical questionnaire.

Time Frame

Collected once during study day.

Title

Testing for the presence of ectodysplasin A (EDA) gene mutations in a subset of subjects enrolled in this study.

Time Frame

Collected once during study day.

10. Eligibility

Sex

Male

Minimum Age & Unit of Time

1 Year

Accepts Healthy Volunteers

Eligibility Criteria

Inclusion Criteria: Registered and attending the 2010 NFED Family Conference; One year of age or greater; Conform to one of the following requirements for providing informed consent: if more than 18 years of age, subjects must provide signed informed consent; if less than 18 years of age and it is determined that the subject is capable of providing assent, both the assent of the subject and consent of the parent(s) or guardian of that subject must be granted. Under this condition, both parents of the subject should give their permission, unless 1 parent is deceased, unknown, incompetent, or not available; if the subject is incapable of providing assent, the consent of the parent(s) or guardian of the subject must be granted. Under this condition, both parents should give their consent, unless 1 parent is deceased, unknown, incompetent, or not available. Subjects must meet one of the following criteria: Male subjects of original gender with the clinical characteristics of HED, including at least a history of decreased sweating and either abnormal teeth (fewer permanent teeth, teeth are smaller than average and often have conical crowns), and/or sparseness of scalp and body hair; Healthy male controls, i.e. either unaffected male family members or unaffected male volunteers. Exclusion Criteria: Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists. Presence of pacemakers. Subjects who are not able or are not willing to comply with the procedures of this protocol. Subjects with any major medical problem that will prevent them from participating in this study.

Study Population Description

Male subjects with HED or unaffected controls

Sampling Method

Non-Probability Sample

Overall Study Officials:

First Name & Middle Initial & Last Name & Degree

Dorothy K Grange, MD

Organizational Affiliation

Washington University School of Medicine

Official's Role

Principal Investigator

Facility Information:

Facility Name

Cheyenne Mountain Resort

City

Colorado Springs

State/Province

Colorado

ZIP/Postal Code

80906

Country

United States

12. IPD Sharing Statement

Learn more about this trial

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

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