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Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - A

Primary Purpose

Hypohidrotic Ectodermal Dysplasia

Status
Completed
Phase
Locations
United States
Study Type
Observational
Intervention
Sponsored by
Edimer Pharmaceuticals
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

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

Eligibility Criteria

14 Years - 29 Years (Child, Adult)MaleAccepts Healthy Volunteers

Inclusion Criteria:

  1. Males age 14-29 years with clinical diagnosis of HED
  2. No scalp shaving in the 6 months prior to enrollment
  3. No current medical therapy for hair loss
  4. Written informed consent for study and genotyping (or signed medical release of previous genetic test results)

Exclusion Criteria:

  1. Medically significant condition as determined by the PI
  2. Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists (e.g. Urecholine, Salagen, Pilocar, Provocholine)
  3. Presence of cardiac pacemaker

Sites / Locations

  • University of California

Arms of the Study

Arm 1

Arm 2

Arm Type

Arm Label

HED Affected Males

Male Controls

Arm Description

Outcomes

Primary Outcome Measures

To assess the hair follicle density and percent anagen hairs in the scalp of HED/XLHED males and unaffected controls
To assess the palmar sweat duct number using confocal microscopy in HED/XLHED males and unaffected controls
To evaluate 3-dimensional imaging technology without radiation exposure for mapping craniofacial development in HED/XLHED males and unaffected controls
To use teeth impressions to construct 3-dimensional dental models for detailed evaluation of abnormalities present in HED/XLHED males (not for controls)
To determine the presence or absence of EDA gene mutations/deletions in males with a clinical diagnosis of HED (not for controls)
To assess by medical history the prevalence of medical complications in HED/XLHED males and unaffected controls
To assess the pilocarpine-stimulated sweat rate on the volar surface of the forearm following pilocarpine iontophoresis in HED/XLHED males and unaffected controls, and to correlate with heat-stimulated sweat test classification

Secondary Outcome Measures

Full Information

First Posted
February 9, 2011
Last Updated
June 26, 2012
Sponsor
Edimer Pharmaceuticals
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1. Study Identification

Unique Protocol Identification Number
NCT01293565
Brief Title
Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - A
Official Title
Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia
Study Type
Observational

2. Study Status

Record Verification Date
June 2012
Overall Recruitment Status
Completed
Study Start Date
February 2011 (undefined)
Primary Completion Date
May 2011 (Actual)
Study Completion Date
July 2011 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Edimer Pharmaceuticals

4. Oversight

Data Monitoring Committee
No

5. Study Description

Brief Summary
The overall purpose of this study is to learn more about Hypohidrotic Ectodermal Dysplasia (HED) and to help in identifying treatment opportunities. Several evaluations will be conducted in this study: 1) the number of skin sweat glands you have and their ability to produce sweat; 2) your ability to grow hair; 3) the structure of your face compared to faces of people affected by HED; 4) molds of your teeth to see if and how they are different than people affected by HED.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Hypohidrotic Ectodermal Dysplasia
Keywords
X-Linked Hypohidrotic Ectodermal Dysplasia, Hypohidrotic Ectodermal Dysplasia, XLHED, HED

7. Study Design

Enrollment
27 (Actual)
Biospecimen Retention
Samples With DNA
Biospecimen Description
Whole blood, serum

8. Arms, Groups, and Interventions

Arm Title
HED Affected Males
Arm Title
Male Controls
Primary Outcome Measure Information:
Title
To assess the hair follicle density and percent anagen hairs in the scalp of HED/XLHED males and unaffected controls
Time Frame
Day 1 and Day 3-4
Title
To assess the palmar sweat duct number using confocal microscopy in HED/XLHED males and unaffected controls
Time Frame
Day 1
Title
To evaluate 3-dimensional imaging technology without radiation exposure for mapping craniofacial development in HED/XLHED males and unaffected controls
Time Frame
Day 1
Title
To use teeth impressions to construct 3-dimensional dental models for detailed evaluation of abnormalities present in HED/XLHED males (not for controls)
Time Frame
Day 1
Title
To determine the presence or absence of EDA gene mutations/deletions in males with a clinical diagnosis of HED (not for controls)
Time Frame
Day 1
Title
To assess by medical history the prevalence of medical complications in HED/XLHED males and unaffected controls
Time Frame
Day 1
Title
To assess the pilocarpine-stimulated sweat rate on the volar surface of the forearm following pilocarpine iontophoresis in HED/XLHED males and unaffected controls, and to correlate with heat-stimulated sweat test classification
Time Frame
Day 1

10. Eligibility

Sex
Male
Minimum Age & Unit of Time
14 Years
Maximum Age & Unit of Time
29 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
Inclusion Criteria: Males age 14-29 years with clinical diagnosis of HED No scalp shaving in the 6 months prior to enrollment No current medical therapy for hair loss Written informed consent for study and genotyping (or signed medical release of previous genetic test results) Exclusion Criteria: Medically significant condition as determined by the PI Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists (e.g. Urecholine, Salagen, Pilocar, Provocholine) Presence of cardiac pacemaker
Study Population Description
HED Affected Members of the UCSF Craniofacial Clinic, HED Affected Members of the National Foundation for Ectodermal Dysplasia
Sampling Method
Non-Probability Sample
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Ophir Klein, MD, PhD
Organizational Affiliation
University of California, San Francisco
Official's Role
Principal Investigator
Facility Information:
Facility Name
University of California
City
San Francisco
State/Province
California
ZIP/Postal Code
94143
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 - A

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