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

NCT01293565 | Completed

• 1 other identifier: ECP-003
• Study Type: observational
• Target: 27
• Locations: 1 country
• Sites: 1

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.

Conditions

Hypohidrotic Ectodermal Dysplasia

Keywords

X-Linked Hypohidrotic Ectodermal Dysplasia; Hypohidrotic Ectodermal Dysplasia; XLHED; HED

Outcome Measures

Primary Outcomes (7)

• 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

Study Arms (2)

HED Affected Males

Male Controls

Eligibility Criteria

• Age: 14 Years - 29 Years
• Sex: male
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• 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

You may qualify if:

• 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)

You may not qualify if:

• 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

Sponsors & Collaborators

• Edimer Pharmaceuticals: lead

Study Sites (1)

University of California

San Francisco, California, 94143, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood, serum

MeSH Terms

Conditions

Ectodermal Dysplasia 1, Anhidrotic

Condition Hierarchy (Ancestors)

Ectodermal Dysplasia; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Abnormalities; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Skin Diseases, Genetic; Skin Diseases; Skin and Connective Tissue Diseases

Study Officials

• Ophir Klein, MD, PhD

  University of California, San Francisco

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 9, 2011
• First Posted: February 10, 2011
• Study Start: February 1, 2011
• Primary Completion: May 1, 2011
• Study Completion: July 1, 2011
• Last Updated: June 28, 2012

Record last verified: 2012-06

Locations

US (1)