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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01109290
Recruitment Status : Completed
First Posted : April 23, 2010
Last Update Posted : September 14, 2011
Edimer Pharmaceuticals
Information provided by (Responsible Party):
Prof. Dr. Holm Schneider, University Hospital Erlangen

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
Hypohidrotic Ectodermal Dysplasia

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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 : April 2010
Actual Primary Completion Date : August 2010
Actual Study Completion Date : June 2011

HED children
HED adults
Control children
Control adults

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 60 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
subjects with recessively inherited hypohidrotic ectodermal dysplasia (HED), their heterozygous family members and healthy controls

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01109290

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University Hospital Erlangen
Erlangen, Bavaria, Germany, D-91054
Sponsors and Collaborators
University Hospital Erlangen
Edimer Pharmaceuticals
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Principal Investigator: Holm Schneider, MD University Hospital Erlangen
Additional Information:
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Responsible Party: Prof. Dr. Holm Schneider, Head of the Division of Molecular Pediatrics, University Hospital Erlangen Identifier: NCT01109290    
Other Study ID Numbers: ED10
First Posted: April 23, 2010    Key Record Dates
Last Update Posted: September 14, 2011
Last Verified: September 2011
Additional relevant MeSH terms:
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Ectodermal Dysplasia
Ectodermal Dysplasia 1, Anhidrotic
Abnormalities, Multiple
Congenital Abnormalities
Skin Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases
Genetic Diseases, X-Linked