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

Sponsor
University Hospital Erlangen (Other)
Overall Status
Completed
CT.gov ID
NCT01109290
Collaborator
Edimer Pharmaceuticals (Industry)
65
Enrollment
1
Location
14
Duration (Months)
4.6
Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease Intervention/Treatment Phase

    Study Design

    Study Type:
    Observational
    Actual Enrollment :
    65 participants
    Observational Model:
    Cohort
    Time Perspective:
    Prospective
    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
    Study Start Date :
    Apr 1, 2010
    Actual Primary Completion Date :
    Aug 1, 2010
    Actual Study Completion Date :
    Jun 1, 2011

    Arms and Interventions

    Arm Intervention/Treatment
    HED children
    HED adults
    Control children
    Control adults

    Outcome Measures

    Primary Outcome Measures

      Eligibility Criteria

      Criteria

      Ages Eligible for Study:
      N/A to 60 Years
      Sexes Eligible for Study:
      All
      Accepts Healthy Volunteers:
      Yes
      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

      Contacts and Locations

      Locations

      Site City State Country Postal Code
      1 University Hospital Erlangen Erlangen Bavaria Germany D-91054

      Sponsors and Collaborators

      • University Hospital Erlangen
      • Edimer Pharmaceuticals

      Investigators

      • Principal Investigator: Holm Schneider, MD, University Hospital Erlangen

      Study Documents (Full-Text)

      None provided.

      More Information

      Publications

      None provided.
      Responsible Party:
      Prof. Dr. Holm Schneider, Head of the Division of Molecular Pediatrics, University Hospital Erlangen
      ClinicalTrials.gov Identifier:
      NCT01109290
      Other Study ID Numbers:
      • ED10
      First Posted:
      Apr 23, 2010
      Last Update Posted:
      Sep 14, 2011
      Last Verified:
      Sep 1, 2011
      Additional relevant MeSH terms:
      Ectodermal Dysplasia
      Ectodermal Dysplasia 1, Anhidrotic

      Study Results

      No Results Posted as of Sep 14, 2011