Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia

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X-linked Hypohidrotic Ectodermal Dysplasia
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Brief Title

Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia

Official Title

Validation of Non-invasive Technologies for the Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia, Their Heterozygous Family Members and Healthy Controls

Brief Summary

      Hypohidrotic ectodermal dysplasia (HED) is a complex genetic disorder characterized by lack
      of sweat glands, sparse hair, and missing or malformed teeth. Inability to sweat may result
      in episodes of severe hyperthermia and cause sudden infant death. To assess sweat gland
      function in HED patients, the investigators will first quantify gland pores in a defined area
      of the palm and then stimulate the glands by pilocarpine followed by sweat collection in a
      special capillary for volume determination. This will be combined with non-invasive skin
      conductance measurement prior and subsequent to stimulation of the sympathetic nervous
      system. The data should provide a basis for genotype-phenotype correlation.

Study Type

Observational

Condition

Hypohidrotic Ectodermal Dysplasia

Study Arms / Comparison Groups

 HED children
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

65

Start Date

April 2010

Completion Date

June 2011

Primary Completion Date

August 2010

Eligibility Criteria

        Inclusion Criteria:

          -  for patients: hypohidrotic ectodermal dysplasia caused by mutations in the genes EDA
             or EDAR

          -  written informed consent

        Exclusion Criteria:

          -  febrile disease

          -  pregnancy or breastfeeding

          -  implantable electronic devices, e.g. pacemaker

          -  hypersensitivity to self-adhesive electrodes

Gender

All

Ages

N/A - 60 Years

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Contacts

Holm Schneider, MD, ,

Location Countries

Germany

Location Countries

Germany

Administrative Informations

NCT ID

NCT01109290

Organization ID

ED10

Responsible Party

Principal Investigator

Study Sponsor

University Hospital Erlangen

Collaborators

 Edimer Pharmaceuticals

Study Sponsor

Holm Schneider, MD, Principal Investigator, University Hospital Erlangen

Verification Date

September 2011