X-linked Hypohidrotic Ectodermal Dysplasia Clinical Trial
Official title:
Investigation of Chronic Inflammatory Processes in the Respiratory Tract and the Eyes of Male Individuals With X-linked Hypohidrotic Ectodermal Dysplasia
Verified date | January 2014 |
Source | University Hospital Erlangen |
Contact | n/a |
Is FDA regulated | No |
Health authority | Germany: Ethics Commission |
Study type | Observational |
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.
Status | Completed |
Enrollment | 38 |
Est. completion date | November 2011 |
Est. primary completion date | November 2011 |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | Male |
Age group | 6 Years to 60 Years |
Eligibility |
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 |
Observational Model: Cohort, Time Perspective: Prospective
Country | Name | City | State |
---|---|---|---|
Germany | University Hospital Erlangen, Competence Centre for Children with Ectodermal Dysplasias | Erlangen | Bavaria |
Lead Sponsor | Collaborator |
---|---|
University Hospital Erlangen | Edimer Pharmaceuticals |
Germany,
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 A — View Citation
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