Clinical trial NCT01293565: 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
Overall status: COMPLETED
Conditions: Hypohidrotic Ectodermal Dysplasia
Keywords: X-Linked Hypohidrotic Ectodermal Dysplasia
Hypohidrotic Ectodermal Dysplasia
XLHED
HED
Lead sponsor: Edimer Pharmaceuticals
Sponsor class: INDUSTRY
First posted: 2011-02-10
Enrollment: 27
Sex: MALE
Minimum age (years): 14
Maximum age (years): 29
Standard ages: CHILD
ADULT
Accepts healthy volunteers: yes
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

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.


Eligibility criteria: 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

Primary outcomes:
measure: To assess the hair follicle density and percent anagen hairs in the scalp of HED/XLHED males and unaffected controls
timeFrame: Day 1 and Day 3-4
measure: To assess the palmar sweat duct number using confocal microscopy in HED/XLHED males and unaffected controls
timeFrame: Day 1
measure: To evaluate 3-dimensional imaging technology without radiation exposure for mapping craniofacial development in HED/XLHED males and unaffected controls
timeFrame: Day 1
measure: To use teeth impressions to construct 3-dimensional dental models for detailed evaluation of abnormalities present in HED/XLHED males (not for controls)
timeFrame: Day 1
measure: To determine the presence or absence of EDA gene mutations/deletions in males with a clinical diagnosis of HED (not for controls)
timeFrame: Day 1
measure: To assess by medical history the prevalence of medical complications in HED/XLHED males and unaffected controls
timeFrame: Day 1
measure: 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
timeFrame: Day 1
Secondary outcomes:
Other outcomes:
Locations:
city: San Francisco
country: United States
facility: University of California
state: California
Study officials:
affiliation: University of California, San Francisco
name: Ophir Klein, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: