Ignite Creation Date:
2025-12-25 @ 2:47 AM
Ignite Modification Date:
2026-02-20 @ 1:31 PM
Study NCT ID:
NCT01308333
Status:
COMPLETED
Last Update Posted:
2014-01-08
First Post:
2011-03-03
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D053358', 'term': 'Ectodermal Dysplasia 1, Anhidrotic'}], 'ancestors': [{'id': 'D004476', 'term': 'Ectodermal Dysplasia'}, {'id': 'D000015', 'term': 'Abnormalities, Multiple'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D012868', 'term': 'Skin Abnormalities'}, {'id': 'D040181', 'term': 'Genetic Diseases, X-Linked'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D012873', 'term': 'Skin Diseases, Genetic'}, {'id': 'D012871', 'term': 'Skin Diseases'}, {'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITHOUT_DNA', 'description': 'tear fluid'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 38}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2011-04'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2014-01', 'completionDateStruct': {'date': '2011-11', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2014-01-07', 'studyFirstSubmitDate': '2011-03-03', 'studyFirstSubmitQcDate': '2011-03-03', 'lastUpdatePostDateStruct': {'date': '2014-01-08', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2011-03-04', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2011-11', 'type': 'ACTUAL'}}, 'conditionsModule': {'conditions': ['X-linked Hypohidrotic Ectodermal Dysplasia']}, 'referencesModule': {'references': [{'pmid': '23553579', 'type': 'RESULT', 'citation': '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.'}]}, 'descriptionModule': {'briefSummary': '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.'}, 'eligibilityModule': {'sex': 'MALE', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '60 Years', 'minimumAge': '6 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'subjects with X-linked hypohidrotic ectodermal dysplasia (XLHED) and healthy controls', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* for patients: X-linked hypohidrotic ectodermal dysplasia caused by mutations in the gene EDA\n* written informed consent\n\nExclusion Criteria:\n\n* acute respiratory disease\n* acute allergic problem, e.g. allergic coryza\n* implantable electronic devices, e.g. pacemaker'}, 'identificationModule': {'nctId': 'NCT01308333', 'briefTitle': 'Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia', 'organization': {'class': 'OTHER', 'fullName': 'University Hospital Erlangen'}, 'officialTitle': 'Investigation of Chronic Inflammatory Processes in the Respiratory Tract and the Eyes of Male Individuals With X-linked Hypohidrotic Ectodermal Dysplasia', 'orgStudyIdInfo': {'id': 'ED11'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'XLHED children'}, {'label': 'XLHED adults'}, {'label': 'Control children'}, {'label': 'Control adults'}]}, 'contactsLocationsModule': {'locations': [{'city': 'Erlangen', 'state': 'Bavaria', 'country': 'Germany', 'facility': 'University Hospital Erlangen, Competence Centre for Children with Ectodermal Dysplasias', 'geoPoint': {'lat': 49.59099, 'lon': 11.00783}}], 'overallOfficials': [{'name': 'Holm Schneider, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'University Hospital Erlangen'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospital Erlangen', 'class': 'OTHER'}, 'collaborators': [{'name': 'Edimer Pharmaceuticals', 'class': 'INDUSTRY'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Head of the Division of Molecular Pediatrics', 'investigatorFullName': 'Prof. Dr. Holm Schneider', 'investigatorAffiliation': 'University Hospital Erlangen'}}}}