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Trial record 10 of 31 for:    "ankyloblepharon-ectodermal defects-cleft lip palate syndrome" OR "Ectodermal Dysplasias"

Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia

This study has been completed.
Edimer Pharmaceuticals
Information provided by (Responsible Party):
Prof. Dr. Holm Schneider, University Hospital Erlangen Identifier:
First received: March 3, 2011
Last updated: January 7, 2014
Last verified: January 2014
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.

X-linked Hypohidrotic Ectodermal Dysplasia

Study Type: Observational
Study Design: 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

Resource links provided by NLM:

Further study details as provided by Prof. Dr. Holm Schneider, University Hospital Erlangen:

Biospecimen Retention:   Samples Without DNA
tear fluid

Enrollment: 38
Study Start Date: April 2011
Study Completion Date: November 2011
Primary Completion Date: November 2011 (Final data collection date for primary outcome measure)
XLHED children
XLHED adults
Control children
Control adults


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
  Contacts and Locations
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Please refer to this study by its identifier: NCT01308333

University Hospital Erlangen, Competence Centre for Children with Ectodermal Dysplasias
Erlangen, Bavaria, Germany
Sponsors and Collaborators
University Hospital Erlangen
Edimer Pharmaceuticals
Principal Investigator: Holm Schneider, MD University Hospital Erlangen
  More Information

Responsible Party: Prof. Dr. Holm Schneider, Head of the Division of Molecular Pediatrics, University Hospital Erlangen Identifier: NCT01308333     History of Changes
Other Study ID Numbers: ED11
Study First Received: March 3, 2011
Last Updated: January 7, 2014

Additional relevant MeSH terms:
Ectodermal Dysplasia
Ectodermal Dysplasia 1, Anhidrotic
Abnormalities, Multiple
Congenital Abnormalities
Skin Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases
Genetic Diseases, X-Linked processed this record on September 19, 2017