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

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01308333

Enrollment

Registered

2011-03-04

Start date

2011-04-30

Completion date

2011-11-30

Last updated

2014-01-08

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

MALE

Age

6 Years to 60 Years

Healthy volunteers

Yes

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

Countries

Germany

Outcome results