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

September 13, 2011 updated by: Prof. Dr. Holm Schneider, University Hospital Erlangen

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

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 Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

65

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Germany
    • Bavaria
      • Erlangen, Bavaria, Germany, D-91054
        • University Hospital Erlangen

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 60 years (ADULT, CHILD)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

subjects with recessively inherited hypohidrotic ectodermal dysplasia (HED), their heterozygous family members and healthy controls

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
HED children
Control children
HED adults
Control adults

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital Erlangen

Collaborators

Edimer Pharmaceuticals

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

April 1, 2010

Primary Completion (ACTUAL)

August 1, 2010

Study Completion (ACTUAL)

June 1, 2011

Study Registration Dates

First Submitted

April 21, 2010

First Submitted That Met QC Criteria

April 22, 2010

First Posted (ESTIMATE)

April 23, 2010

Study Record Updates

Last Update Posted (ESTIMATE)

September 14, 2011

Last Update Submitted That Met QC Criteria

September 13, 2011

Last Verified

September 1, 2011

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • ED10

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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