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

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.

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Key information

Conditions

X-Linked Hypohidrotic Ectodermal Dysplasia Abnormalities, Multiple Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Ectodermal Dysplasia Ectodermal Dysplasia 1, Anhidrotic Genetic Diseases, Inborn Genetic Diseases, X-Linked Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases

Age range

6 year–60 year

Sex eligibility

Male

Study type

Observational

Primary location

University Hospital Erlangen, Competence Centre for Children with Ectodermal Dysplasias

Erlangen, Bavaria, Germany

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Sponsors and collaborators

Lead sponsor

University Hospital Erlangen

Other

Collaborators

Edimer Pharmaceuticals

Registry information

Official study title

Investigation of Chronic Inflammatory Processes in the Respiratory Tract and the Eyes of Male Individuals With X-linked Hypohidrotic Ectodermal Dysplasia

Important dates

Study start: 2011
Primary completion: 2011
Study completion: 2011
First posted: Mar 4, 2011
Registry last updated: Jan 8, 2014

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

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This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed