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

Hypohidrotic Ectodermal Dysplasia Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01293565
• Other study ID #: ECP-003
• Status: Completed
• Phase: N/A
• First received: February 9, 2011
• Last updated: June 26, 2012
• Start date: February 2011
• Est. completion date: July 2011

Study information

• Verified date: June 2012
• Source: Edimer Pharmaceuticals
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Institutional Review Board
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 27
• Est. completion date: July 2011
• Est. primary completion date: May 2011
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Male
• Age group: 14 Years to 29 Years

Eligibility

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 Design

N/A

Related Conditions & MeSH terms

• Ectodermal Dysplasia
• Hypohidrotic Ectodermal Dysplasia

Locations

Country	Name	City	State
United States	University of California	San Francisco	California

Sponsors (1)

Lead Sponsor	Collaborator
Edimer Pharmaceuticals

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	No
Primary	To assess the palmar sweat duct number using confocal microscopy in HED/XLHED males and unaffected controls		Day 1	No
Primary	To evaluate 3-dimensional imaging technology without radiation exposure for mapping craniofacial development in HED/XLHED males and unaffected controls		Day 1	No
Primary	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	No
Primary	To determine the presence or absence of EDA gene mutations/deletions in males with a clinical diagnosis of HED (not for controls)		Day 1	No
Primary	To assess by medical history the prevalence of medical complications in HED/XLHED males and unaffected controls		Day 1	No
Primary	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	No