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

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X-linked Hypohidrotic Ectodermal Dysplasia
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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