Investigation of Chronic Inflammatory Processes in Male Individuals With 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:
NCT01308333
First received: March 3, 2011
Last updated: January 7, 2014
Last verified: January 2014
  Purpose

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
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 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)
Groups/Cohorts
XLHED children
XLHED adults
Control children
Control adults

  Eligibility

Ages Eligible for Study:   6 Years to 60 Years
Genders 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

Criteria

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
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: NCT01308333

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

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

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

ClinicalTrials.gov processed this record on September 30, 2014