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

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Brief Title

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

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.
    



Study Type

Observational


Primary Outcome

To assess the hair follicle density and percent anagen hairs in the scalp of HED/XLHED males and unaffected controls


Condition

Hypohidrotic Ectodermal Dysplasia


Study Arms / Comparison Groups

 HED Affected Males
Description:  

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

27

Start Date

February 2011

Completion Date

July 2011

Primary Completion Date

May 2011

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
      

Gender

Male

Ages

14 Years - 29 Years

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Contacts

Ophir Klein, MD, PhD, , 

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT01293565

Organization ID

ECP-003


Responsible Party

Sponsor

Study Sponsor

Edimer Pharmaceuticals


Study Sponsor

Ophir Klein, MD, PhD, Principal Investigator, University of California, San Francisco


Verification Date

June 2012