Now Available for Public Comment: Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials

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

This study has been completed.
Sponsor:
Collaborator:
Edimer Pharmaceuticals
Information provided by (Responsible Party):
Prof. Dr. Holm Schneider, University Hospital Erlangen
ClinicalTrials.gov Identifier:
NCT01109290
First received: April 21, 2010
Last updated: September 13, 2011
Last verified: September 2011
  Purpose

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
Hypohidrotic Ectodermal Dysplasia

Study Type: Observational
Study Design: 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

Resource links provided by NLM:


Further study details as provided by University Hospital Erlangen:

Enrollment: 65
Study Start Date: April 2010
Study Completion Date: June 2011
Primary Completion Date: August 2010 (Final data collection date for primary outcome measure)
Groups/Cohorts
HED children
HED adults
Control children
Control adults

  Eligibility

Ages Eligible for Study:   up to 60 Years
Genders Eligible for Study:   Both
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

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01109290

Locations
Germany
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
  More Information

Additional Information:
No publications provided

Responsible Party: Prof. Dr. Holm Schneider, Head of the Division of Molecular Pediatrics, University Hospital Erlangen
ClinicalTrials.gov Identifier: NCT01109290     History of Changes
Other Study ID Numbers: ED10
Study First Received: April 21, 2010
Last Updated: September 13, 2011
Health Authority: Germany: Ethics Commission

Additional relevant MeSH terms:
Ectodermal Dysplasia
Ectodermal Dysplasia 1, Anhidrotic
Abnormalities, Multiple
Congenital Abnormalities
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Skin Abnormalities
Skin Diseases
Skin Diseases, Genetic

ClinicalTrials.gov processed this record on November 27, 2014