Ignite Creation Date:
2025-12-26 @ 1:19 PM
Ignite Modification Date:
2026-03-06 @ 12:12 PM
Study NCT ID:
NCT07096206
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2025-07-31
First Post:
2025-07-24
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Characteristics and Impacts of X-linked Hypohidrotic Ectodermal Dysplasia (XLHED) in Boys: An Observational International Study
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': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 27}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'ACTIVE_NOT_RECRUITING', 'startDateStruct': {'date': '2023-07-19', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-07', 'completionDateStruct': {'date': '2026-11-19', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-07-24', 'studyFirstSubmitDate': '2025-07-24', 'studyFirstSubmitQcDate': '2025-07-24', 'lastUpdatePostDateStruct': {'date': '2025-07-31', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2025-07-31', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2026-11-19', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Age', 'timeFrame': 'At inclusion', 'description': 'mean age'}, {'measure': 'Ectodysplasin A (EDA) characterization of the mutation (null or hypomorphic)', 'timeFrame': 'at inclusion', 'description': '% of patients'}, {'measure': 'Mean sweat volume (µL)', 'timeFrame': 'at inclusion', 'description': 'mean (µL)'}, {'measure': 'Mean sweat volume (µL)', 'timeFrame': 'at one year', 'description': 'mean (µL)'}, {'measure': 'Mean sweat volume (µL)', 'timeFrame': 'at two years', 'description': 'mean (µL)'}, {'measure': 'Sweat pore density', 'timeFrame': 'at inclusion', 'description': '% of patients with normal/abnormal sweat pore density'}, {'measure': 'Sweat pore density', 'timeFrame': 'at one year', 'description': '% of patients with normal/abnormal sweat pore density'}, {'measure': 'Sweat pore density', 'timeFrame': 'at two years', 'description': '% of patients with normal/abnormal sweat pore density'}, {'measure': 'Dentition problem (anodontia, hypodontia, oligodentia)', 'timeFrame': 'at inclusion', 'description': '% of patients'}, {'measure': 'Dentition problem (anodontia, hypodontia, oligodentia)', 'timeFrame': 'at one year', 'description': '% of patients'}, {'measure': 'Dentition problem (anodontia, hypodontia, oligodentia)', 'timeFrame': 'at two years', 'description': '% of patients'}, {'measure': 'Dry eyes', 'timeFrame': 'at inclusion', 'description': '% of patients'}, {'measure': 'Dry skin', 'timeFrame': 'at inclusion', 'description': '% of patients'}], 'secondaryOutcomes': [{'measure': 'Pediatric Quality of Life Inventory (PedsQL) at inclusion', 'timeFrame': 'at inclusion', 'description': 'mean +/- SD of the Global score'}, {'measure': 'PedsQL (parent report)', 'timeFrame': 'at inclusion', 'description': 'mean +/- SD of the Global score'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Observational study', 'X-Linked Hypohidrotic Ectodermal Dysplasia', 'XLHED', 'EDA null mutation'], 'conditions': ['X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)']}, 'descriptionModule': {'briefSummary': 'This is an observational, multicentre, international study over a 2-year follow-up period.\n\nThe aim of this study is to understand how XLHED affects the lives of young male patients and their families over time. By studying the natural course of the disease and its impact, the study could improve the understanding of the challenges faced by these patients and their families.', 'detailedDescription': "XLHED is a rare genetic condition that affects more severely males. The main symptoms are missing or reduced ability to sweat, leading to a risk of dangerous overheating, as well as few or no teeth and sparse hair. This condition can significantly impact the daily lives of patients and their families.\n\nGiven the rarity of the disease and the purely descriptive purposes of the study, all eligible patients may be included over a period of approximately 12 months. It is expected to include between 20 and 30 male patients over one year of enrolment in France and Germany.\n\nStatistical analysis: will be descriptive with no hypothesis tested. Questionnaires will be completed by the child's parent at inclusion and at 1 and 2 years after the inclusion data"}, 'eligibilityModule': {'sex': 'MALE', 'stdAges': ['CHILD'], 'maximumAge': '11 Years', 'minimumAge': '0 Years', 'genderBased': True, 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'National expert centres specialized in XLHED in France and Germany', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Boy\n* Age at inclusion: from birth to the day before the 11th birthday\n* XLHED disease that has been diagnosed by:\n* genetic testing or\n* symptoms (sweating ability, teeth and hair impairment) and genetic diagnosis of the mother\n\nExclusion Criteria:\n\n* Any previous treatment with ER004 or participation in a clinical trial testing ER004\n* Testing for XLHED disease with a negative result'}, 'identificationModule': {'nctId': 'NCT07096206', 'acronym': 'EdeReaLife', 'briefTitle': 'Characteristics and Impacts of X-linked Hypohidrotic Ectodermal Dysplasia (XLHED) in Boys: An Observational International Study', 'organization': {'class': 'INDUSTRY', 'fullName': 'Pierre Fabre Medicament'}, 'officialTitle': 'Natural History and Disease Burden of X-linked Hypohidrotic Ectodermal Dysplasia (XLHED): An Observational, Multicentre, International Study (EdeReaLife)', 'orgStudyIdInfo': {'id': 'NIS16479'}}, 'contactsLocationsModule': {'locations': [{'zip': '75015', 'city': 'Paris', 'country': 'France', 'facility': 'Necker hospital', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'zip': '91054', 'city': 'Erlangen', 'country': 'Germany', 'facility': 'Uniklinikum Erlangen', 'geoPoint': {'lat': 49.59099, 'lon': 11.00783}}], 'overallOfficials': [{'name': 'Marlène Guiraud', 'role': 'STUDY_DIRECTOR', 'affiliation': 'Pierre Fabre Médicament'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Pierre Fabre Medicament', 'class': 'INDUSTRY'}, 'responsibleParty': {'type': 'SPONSOR'}}}}