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

NCT ID: NCT01109290

Last Updated: 2011-09-14

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

65 participants

Study Classification

OBSERVATIONAL

Study Start Date

2010-04-30

Study Completion Date

2011-06-30

Brief Summary

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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.

Detailed Description

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Conditions

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Hypohidrotic Ectodermal Dysplasia

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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HED children

No interventions assigned to this group

HED adults

No interventions assigned to this group

Control children

No interventions assigned to this group

Control adults

No interventions assigned to this group

Eligibility Criteria

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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
Maximum Eligible Age

60 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Edimer Pharmaceuticals

INDUSTRY

Sponsor Role collaborator

University Hospital Erlangen

OTHER

Sponsor Role lead

Responsible Party

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Prof. Dr. Holm Schneider

Head of the Division of Molecular Pediatrics

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Holm Schneider, MD

Role: PRINCIPAL_INVESTIGATOR

University Hospital Erlangen

Locations

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University Hospital Erlangen

Erlangen, Bavaria, Germany

Site Status

Countries

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Germany

Other Identifiers

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ED10

Identifier Type: -

Identifier Source: org_study_id

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