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

This study has been completed.
Information provided by (Responsible Party):
Edimer Pharmaceuticals Identifier:
First received: February 9, 2011
Last updated: June 26, 2012
Last verified: June 2012
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.

Hypohidrotic Ectodermal Dysplasia

Study Type: Observational
Official Title: Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia

Resource links provided by NLM:

Further study details as provided by Edimer Pharmaceuticals:

Primary Outcome Measures:
  • 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 ]

Biospecimen Retention:   Samples With DNA
Whole blood, serum

Enrollment: 27
Study Start Date: February 2011
Study Completion Date: July 2011
Primary Completion Date: May 2011 (Final data collection date for primary outcome measure)
HED Affected Males
Male Controls


Ages Eligible for Study:   14 Years to 29 Years   (Child, Adult)
Sexes Eligible for Study:   Male
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

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01293565

United States, California
University of California
San Francisco, California, United States, 94143
Sponsors and Collaborators
Edimer Pharmaceuticals
Principal Investigator: Ophir Klein, MD, PhD University of California, San Francisco
  More Information

Responsible Party: Edimer Pharmaceuticals Identifier: NCT01293565     History of Changes
Other Study ID Numbers: ECP-003
Study First Received: February 9, 2011
Last Updated: June 26, 2012

Keywords provided by Edimer Pharmaceuticals:
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypohidrotic Ectodermal Dysplasia

Additional relevant MeSH terms:
Ectodermal Dysplasia 1, Anhidrotic
Ectodermal Dysplasia
Pathologic Processes
Abnormalities, Multiple
Congenital Abnormalities
Skin Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases
Genetic Diseases, X-Linked processed this record on September 21, 2017