Brief Title
Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia
Official Title
Investigation of Chronic Inflammatory Processes in the Respiratory Tract and the Eyes of Male Individuals With X-linked Hypohidrotic Ectodermal Dysplasia
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.
Study Type
Observational
Condition
X-linked Hypohidrotic Ectodermal Dysplasia
Study Arms / Comparison Groups
XLHED children
Description:
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Estimated Enrollment
38
Start Date
April 2011
Completion Date
November 2011
Primary Completion Date
November 2011
Eligibility 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
Gender
Male
Ages
6 Years - 60 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Contacts
Holm Schneider, MD, ,
Location Countries
Germany
Location Countries
Germany
Administrative Informations
NCT ID
NCT01308333
Organization ID
ED11
Responsible Party
Principal Investigator
Study Sponsor
University Hospital Erlangen
Collaborators
Edimer Pharmaceuticals
Study Sponsor
Holm Schneider, MD, Principal Investigator, University Hospital Erlangen
Verification Date
January 2014