Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation

Brief Title

Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation

Official Title

Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation

Brief Summary

      This study in affected Hypohidrotic Ectodermal Dysplasia (HED) males and unaffected male
      controls, age 1 year and up, will use minimally invasive devices to image sweat ducts in
      intact skin, to measure stimulated sweat rate, and in a subset of subjects to collect clipped
      scalp hair samples for RNA analysis. This study is descriptive in nature and is intended to
      assess the ability to use innovative approaches to generate data from subjects over a wide
      age spectrum, with particular emphasis on phenotype variability between male siblings (same
      mutation).
    

Detailed Description

      This pilot study in affected HED males and unaffected male controls, age 1 year and up, will
      use minimally invasive devices to image sweat ducts in intact skin, to measure stimulated
      sweat rate, and in a subset of subjects to collect clipped scalp hair samples for RNA
      analysis. This study is descriptive in nature and is intended to assess the ability to use
      innovative approaches to generate data from subjects over a wide age spectrum, with
      particular emphasis on phenotype variability between male siblings (same mutation). To this
      end, priority will be given to families that contain multiple affected siblings (i.e. two
      brothers). Summary data will be generated for the various groups tested, but no power
      calculations are involved.
    

Study Type

Observational

Primary Outcome

Use skin assessment techniques to characterize skin properties in male subjects affected by HED compared with healthy controls, including determination of the number of sweat ducts and the rate of sweating

Secondary Outcome

 Collecting demographic and clinical status information in male subjects affected by HED using a medical questionnaire

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.

Estimated Enrollment

64

Start Date

June 2011

Completion Date

September 2011

Primary Completion Date

July 2011

Eligibility Criteria

        Inclusion Criteria:

          -  Registered and attending the 2011 NFED Family Conference;

          -  One year of age or greater;

          -  Conform to one of the following requirements for providing informed consent/assent:

               -  if more than 18 years of age, subjects must provide signed informed consent;

               -  if less than 18 years of age and it is determined that the subject is capable of
                  providing assent, both the assent of the subject and consent of the parent(s) or
                  guardian of that subject must be granted. Under this condition, both parents of
                  the subject should give their permission, unless 1 parent is deceased, unknown,
                  incompetent, or not available;

               -  if the subject is incapable of providing assent, the consent of the parent(s) or
                  guardian of the subject must be granted. Under this condition, both parents
                  should give their consent, unless 1 parent is deceased, unknown, incompetent, or
                  not available.

          -  As described in Section 3.2 above, subjects must meet one of the following criteria:

               -  Male subjects with the clinical characteristics of HED, including at least a
                  history of decreased sweating and either abnormal teeth (fewer permanent teeth,
                  teeth are smaller than average and often have conical crowns), and/or sparseness
                  of scalp and body hair (Male HED subjects with an affected sibling also enrolling
                  in the study will be given priority to be in the study);

               -  Healthy male controls, i.e. either unaffected male family members or unaffected
                  male volunteers.

        Exclusion Criteria:

          -  Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists;

          -  Known hypersensitivity to lidocaine or lidocaine like agents;

          -  Presence of pacemakers;

          -  Subjects who are not able or are not willing to comply with the procedures of this
             protocol;

          -  Subjects with any major medical problem that will prevent them from participating in
             this study.
      

Gender

Male

Ages

1 Year - N/A

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Contacts

Dorothy K Grange, MD, , 

Location Countries

United States

Location Countries

United States

NCT ID

NCT01386775

Organization ID

ECP-007

Responsible Party

Sponsor

Study Sponsor

Edimer Pharmaceuticals

Study Sponsor

Dorothy K Grange, MD, Principal Investigator, Washington University School of Medicine

Verification Date

June 2012