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Completed

NCT Number: NCT01293565

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

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.

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Key information

Conditions

Hypohidrotic Ectodermal Dysplasia Abnormalities, Multiple Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Ectodermal Dysplasia Ectodermal Dysplasia 1, Anhidrotic Genetic Diseases, Inborn Genetic Diseases, X-Linked Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases

Age range

14 year–29 year

Sex eligibility

Male

Study type

Observational

Primary location

University of California

San Francisco, California, 94143, United States

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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)

Exclusion criteria

  • 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

Treatment and study plan

Primary outcomes

  1. 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

  2. To assess the palmar sweat duct number using confocal microscopy in HED/XLHED males and unaffected controls

    Time frame: Day 1

  3. To evaluate 3-dimensional imaging technology without radiation exposure for mapping craniofacial development in HED/XLHED males and unaffected controls

    Time frame: Day 1

  4. 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

  5. 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

  6. To assess by medical history the prevalence of medical complications in HED/XLHED males and unaffected controls

    Time frame: Day 1

  7. 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

Sponsors and collaborators

Lead sponsor

Edimer Pharmaceuticals

Industry

Registry information

Official study title

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

Important dates

Study start
2011
Primary completion
2011
Study completion
2011
First posted
Feb 10, 2011
Registry last updated
Jun 28, 2012

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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