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Investigation of Chronic Inflammatory Processes in Male Individuals With 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: NCT01308333
Recruitment Status : Completed
First Posted : March 4, 2011
Last Update Posted : January 8, 2014
Edimer Pharmaceuticals
Information provided by (Responsible Party):
Prof. Dr. Holm Schneider, University Hospital Erlangen

Brief Summary:
X-linked hypohidrotic ectodermal dysplasia (XLHED) is a complex genetic disorder characterized by lack of sweat, sebaceous, submucous, Meibomian and mammary glands, sparse hair and eyebrows, and oligodontia. Insufficient function of the respective glands may lead to chronic inflammatory processes in airways and eyes of the affected individuals. The investigators will quantify sweat glands of XLHED patients, assess chronic conjunctivitis and blepharitis in conjunction with quantitative and/or qualitative alterations of lacrimal fluid in these subjects, evaluate lung function and assess chronic inflammatory processes in the airways by NO measurements. The data should provide a basis for genotype-phenotype correlations.

Condition or disease
X-linked Hypohidrotic Ectodermal Dysplasia

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Study Type : Observational
Actual Enrollment : 38 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Investigation of Chronic Inflammatory Processes in the Respiratory Tract and the Eyes of Male Individuals With X-linked Hypohidrotic Ectodermal Dysplasia
Study Start Date : April 2011
Actual Primary Completion Date : November 2011
Actual Study Completion Date : November 2011

XLHED children
XLHED adults
Control children
Control adults

Biospecimen Retention:   Samples Without DNA
tear fluid

Information from the National Library of Medicine

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Ages Eligible for Study:   6 Years to 60 Years   (Child, Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
subjects with X-linked hypohidrotic ectodermal dysplasia (XLHED) and healthy controls

Inclusion Criteria:

  • for patients: X-linked hypohidrotic ectodermal dysplasia caused by mutations in the gene EDA
  • written informed consent

Exclusion Criteria:

  • acute respiratory disease
  • acute allergic problem, e.g. allergic coryza
  • implantable electronic devices, e.g. pacemaker

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): NCT01308333

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University Hospital Erlangen, Competence Centre for Children with Ectodermal Dysplasias
Erlangen, Bavaria, Germany
Sponsors and Collaborators
University Hospital Erlangen
Edimer Pharmaceuticals
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Principal Investigator: Holm Schneider, MD University Hospital Erlangen
Publications of Results:
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Responsible Party: Prof. Dr. Holm Schneider, Head of the Division of Molecular Pediatrics, University Hospital Erlangen Identifier: NCT01308333    
Other Study ID Numbers: ED11
First Posted: March 4, 2011    Key Record Dates
Last Update Posted: January 8, 2014
Last Verified: January 2014
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