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

NCT ID: NCT01308333

Last Updated: 2014-01-08

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

38 participants

Study Classification

OBSERVATIONAL

Study Start Date

2011-04-30

Study Completion Date

2011-11-30

Brief Summary

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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.

Detailed Description

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Conditions

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X-linked Hypohidrotic Ectodermal Dysplasia

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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XLHED children

No interventions assigned to this group

XLHED adults

No interventions assigned to this group

Control children

No interventions assigned to this group

Control adults

No interventions assigned to this group

Eligibility Criteria

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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
Minimum Eligible Age

6 Years

Maximum Eligible Age

60 Years

Eligible Sex

MALE

Accepts Healthy Volunteers

Yes

Sponsors

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Edimer Pharmaceuticals

INDUSTRY

Sponsor Role collaborator

University Hospital Erlangen

OTHER

Sponsor Role lead

Responsible Party

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Prof. Dr. Holm Schneider

Head of the Division of Molecular Pediatrics

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Holm Schneider, MD

Role: PRINCIPAL_INVESTIGATOR

University Hospital Erlangen

Locations

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University Hospital Erlangen, Competence Centre for Children with Ectodermal Dysplasias

Erlangen, Bavaria, Germany

Site Status

Countries

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Germany

References

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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 Apr 4.

Reference Type RESULT
PMID: 23553579 (View on PubMed)

Other Identifiers

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ED11

Identifier Type: -

Identifier Source: org_study_id

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