Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia
1 other identifier
observational
38
1 country
1
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for all trials
Started Apr 2011
Shorter than P25 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
March 3, 2011
CompletedFirst Posted
Study publicly available on registry
March 4, 2011
CompletedStudy Start
First participant enrolled
April 1, 2011
CompletedPrimary Completion
Last participant's last visit for primary outcome
November 1, 2011
CompletedStudy Completion
Last participant's last visit for all outcomes
November 1, 2011
CompletedJanuary 8, 2014
January 1, 2014
7 months
March 3, 2011
January 7, 2014
Conditions
Study Arms (4)
XLHED children
XLHED adults
Control children
Control adults
Eligibility Criteria
subjects with X-linked hypohidrotic ectodermal dysplasia (XLHED) and healthy controls
You may qualify if:
- for patients: X-linked hypohidrotic ectodermal dysplasia caused by mutations in the gene EDA
- written informed consent
You may not qualify if:
- acute respiratory disease
- acute allergic problem, e.g. allergic coryza
- implantable electronic devices, e.g. pacemaker
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- University Hospital Erlangenlead
- Edimer Pharmaceuticalscollaborator
Study Sites (1)
University Hospital Erlangen, Competence Centre for Children with Ectodermal Dysplasias
Erlangen, Bavaria, Germany
Related Publications (1)
Dietz J, Kaercher T, Schneider AT, Zimmermann T, Huttner K, Johnson R, Schneider H. Early respiratory and ocular involvement in X-linked hypohidrotic ectodermal dysplasia. Eur J Pediatr. 2013 Aug;172(8):1023-31. doi: 10.1007/s00431-013-1985-8. Epub 2013 Apr 4.
PMID: 23553579RESULT
Biospecimen
tear fluid
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Holm Schneider, MD
University Hospital Erlangen
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Head of the Division of Molecular Pediatrics
Study Record Dates
First Submitted
March 3, 2011
First Posted
March 4, 2011
Study Start
April 1, 2011
Primary Completion
November 1, 2011
Study Completion
November 1, 2011
Last Updated
January 8, 2014
Record last verified: 2014-01