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

Edimer Pharmaceuticals27 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Hypohidrotic Ectodermal Dysplasia

Eligibility

Sex: MALEMin age: 14 YearsMax age: 29 YearsHealthy volunteers:

Medical Language ↔ Plain English

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

Locations (1)

University of California

San Francisco, California, United States

Outcomes

Primary Outcomes

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

To assess the palmar sweat duct number using confocal microscopy in HED/XLHED males and unaffected controls

Time frame: Day 1

To evaluate 3-dimensional imaging technology without radiation exposure for mapping craniofacial development in HED/XLHED males and unaffected controls

Time frame: Day 1

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

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

To assess by medical history the prevalence of medical complications in HED/XLHED males and unaffected controls

Time frame: Day 1

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

Data from ClinicalTrials.gov

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