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

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

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 Overview

• Status: Completed
• Conditions: Hypohidrotic Ectodermal Dysplasia

• Study Type: Observational
• Enrollment (Actual): 27

Contacts and Locations

Study Locations

• United States
  • California
    • San Francisco, California, United States, 94143
      • University of California

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 14 years to 29 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Male

• Sampling Method: Non-Probability Sample

Study Population

HED Affected Members of the UCSF Craniofacial Clinic, HED Affected Members of the National Foundation for Ectodermal Dysplasia

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
HED Affected Males
Male Controls

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
To assess the hair follicle density and percent anagen hairs in the scalp of HED/XLHED males and unaffected controls	Day 1 and Day 3-4
To assess the palmar sweat duct number using confocal microscopy in HED/XLHED males and unaffected controls	Day 1
To evaluate 3-dimensional imaging technology without radiation exposure for mapping craniofacial development in HED/XLHED males and unaffected controls	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)	Day 1
To determine the presence or absence of EDA gene mutations/deletions in males with a clinical diagnosis of HED (not for controls)	Day 1
To assess by medical history the prevalence of medical complications in HED/XLHED males and unaffected controls	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	Day 1

Collaborators and Investigators

• Sponsor: Edimer Pharmaceuticals
• Investigators: Principal Investigator: Ophir Klein, MD, PhD, University of California, San Francisco

Study record dates

Study Major Dates

• Study Start: February 1, 2011
• Primary Completion (Actual): May 1, 2011
• Study Completion (Actual): July 1, 2011

Study Registration Dates

• First Submitted: February 9, 2011
• First Submitted That Met QC Criteria: February 9, 2011
• First Posted (Estimate): February 10, 2011

Study Record Updates

• Last Update Posted (Estimate): June 28, 2012
• Last Update Submitted That Met QC Criteria: June 26, 2012
• Last Verified: June 1, 2012

More Information

Terms related to this study

• Keywords: HED; XLHED; X-Linked Hypohidrotic Ectodermal Dysplasia; Hypohidrotic Ectodermal Dysplasia
• Additional Relevant MeSH Terms: Pathologic Processes; Skin Diseases; Congenital Abnormalities; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Skin Diseases, Genetic; Skin Abnormalities; Abnormalities, Multiple; Hyperplasia; Ectodermal Dysplasia; Ectodermal Dysplasia 1, Anhidrotic
• Other Study ID Numbers: ECP-003