Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012)

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Brief Title

Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012)

Official Title

Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012)

Brief Summary

      The study proposes to enroll male subjects affected by Hypohidrotic Ectodermal Dysplasia
      (XLHED). The sweat duct images will be acquired with a CE marked skin-imaging device and the
      sweat rate will be measured using a CE marked pilocarpine iontophoresis and collection
      system. The technologies for both imaging of sweat ducts and the measurement of maximal sweat
      rate have been used safely and without adverse events in our prior studies involving
      HED/XLHED subjects. Furthermore, this study will assess the feasibility of developing a
      non-invasive screening tool that will enable detection of clinical signs of XLHED based on an
      analysis of a two dimensional frontal photograph.
    

Detailed Description

      The study proposes to enroll male subjects affected by XLHED (determined by genetic testing
      and restricted to age > 1 yr). The sweat duct images will be acquired with a CE marked
      skin-imaging device and the sweat rate will be measured using a CE marked pilocarpine
      iontophoresis and collection system. The technologies for both imaging of sweat ducts and the
      measurement of maximal sweat rate have been used safely and without adverse events in our
      prior studies involving HED/XLHED subjects. Furthermore, this study will assess the
      feasibility of developing a non-invasive screening tool that will enable detection of
      clinical signs of XLHED based on an analysis of a two dimensional frontal photograph.
    


Study Type

Observational


Primary Outcome

Collecting demographic and clinical status information in XLHED affected males and unaffected male siblings using a medical questionnaire and clinical photographs

Secondary Outcome

 The secondary objective of this descriptive study is to use skin assessment techniques to characterize skin properties in male subjects affected by XLHED compared with unaffected male sibling controls, including determination of the number of sweat ducts

Condition

X-linked Hypohidrotic Ectodermal Dysplasia


Study Arms / Comparison Groups

 HED-affected males
Description:  Male subjects affected by HED

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

30

Start Date

March 2012

Completion Date

June 2012

Primary Completion Date

April 2012

Eligibility Criteria

        Inclusion Criteria:

        Subjects must meet all of the following criteria to be enrolled in this study.

          -  Attending the 2012 Spanish Association for those Affected by Ectodermal Dysplasia
             Annual Reunion;

          -  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.

          -  Can provide documentation of genetic testing results positive for an EDA gene mutation
             /deletion;

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

               -  Documented diagnosis of XLHED confirmed via genetic testing;

               -  Unaffected male controls.

        Exclusion Criteria:

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

          -  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

Encarna Navarro, MD, PhD, , 

Location Countries

Spain

Location Countries

Spain

Administrative Informations


NCT ID

NCT01629927

Organization ID

ECP-012


Responsible Party

Sponsor

Study Sponsor

Edimer Pharmaceuticals


Study Sponsor

Encarna Navarro, MD, PhD, Principal Investigator, Hospital Universitario Virgen de la Arrixaca


Verification Date

June 2012