Ignite Creation Date:
2025-12-24 @ 9:48 PM
Ignite Modification Date:
2026-04-04 @ 8:03 AM
Study NCT ID:
NCT05939232
Status:
RECRUITING
Last Update Posted:
2023-07-11
First Post:
2023-05-16
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Registry of X-linked Adrenoleukodystrophy
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D000326', 'term': 'Adrenoleukodystrophy'}], 'ancestors': [{'id': 'D020739', 'term': 'Brain Diseases, Metabolic, Inborn'}, {'id': 'D001928', 'term': 'Brain Diseases, Metabolic'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D020279', 'term': 'Hereditary Central Nervous System Demyelinating Diseases'}, {'id': 'D056784', 'term': 'Leukoencephalopathies'}, {'id': 'D003711', 'term': 'Demyelinating Diseases'}, {'id': 'D038901', 'term': 'X-Linked Intellectual Disability'}, {'id': 'D008607', 'term': 'Intellectual Disability'}, {'id': 'D019954', 'term': 'Neurobehavioral Manifestations'}, {'id': 'D009461', 'term': 'Neurologic Manifestations'}, {'id': 'D040181', 'term': 'Genetic Diseases, X-Linked'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D020271', 'term': 'Heredodegenerative Disorders, Nervous System'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D018901', 'term': 'Peroxisomal Disorders'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D000309', 'term': 'Adrenal Insufficiency'}, {'id': 'D000307', 'term': 'Adrenal Gland Diseases'}, {'id': 'D004700', 'term': 'Endocrine System Diseases'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Whole blood, urine, and feces were retained at baseline, 1 year, 2 year, 3 year, 4 year and 5 year during follow-up. Details of biospecimen sampling as the following:\n\nnumbers of sampling: 200 subjects; serum: 21600 tubes, 0.5mL/tube; plasma: 7200 tubes, 0.5mL/tube; urine: 24000 tubes, 1mL/tube; feces: 7200 tubes, 12g/tube; other biospecimen (white blood cell): 6000 tubes, 0.5mL/tube.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 200}, 'targetDuration': '5 Years', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2023-07-20', 'type': 'ESTIMATED'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2023-07', 'completionDateStruct': {'date': '2028-12-01', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2023-07-02', 'studyFirstSubmitDate': '2023-05-16', 'studyFirstSubmitQcDate': '2023-07-02', 'lastUpdatePostDateStruct': {'date': '2023-07-11', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2023-07-11', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2028-12-01', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Epidemiological characteristics in Chinese X-ALD patients', 'timeFrame': '5 years', 'description': 'Constructing a Chinese X-ALD epidemiological information database by collecting epidemiological information from X-ALD patients.'}, {'measure': 'Clinical characteristics in Chinese X-ALD patients', 'timeFrame': '5 years', 'description': 'Constructing a Chinese X-ALD clinical sympotoms information database by collecting clinical symptoms information from X-ALD patients.'}, {'measure': 'Imaging characteristics in Chinese X-ALD patients', 'timeFrame': '5 years', 'description': "Constructing a Chinese X-ALD patient's head MRI information database by collecting head MRI information from X-ALD patients."}, {'measure': 'The disease development in Chinese X-ALD patients', 'timeFrame': '5 years', 'description': "Record the progress of patients' clinical symptoms from baseline through 5-year follow-up."}, {'measure': 'New pathogenic loci of Chinese X-ALD patients in whole genome sequencing/whole exon sequencing', 'timeFrame': '5 years', 'description': 'To find and identify new pathogenic loci of X-ALD in whole genome sequencing/whole exon sequencing through comparing the differences of whole genome sequencing/whole exon sequencing between X-ALD patients and carrier-control individuals.'}], 'secondaryOutcomes': [{'measure': 'Etiology of Chinese X-ALD patients', 'timeFrame': '5 years', 'description': 'Etiological factors,including genetic and environmental etiological factors, will be explored by genomic analysis, lasso regression, multiple logistic regression, and cox proportional hazards regression.'}, {'measure': 'The change of imagin features in Chinese X-ALD patients', 'timeFrame': 'day 1, year 1, year 2, year 3, year 4, year 5', 'description': "Record the change of the patient's head MRI from baseline through follow-up every year."}, {'measure': 'The associations between genetic factors and clinical characteristics of Chinese X-ALD patients', 'timeFrame': '5 years', 'description': 'β coefficient and 95%CI values in linear regression, OR and 95%CI values in logistic regression analysis, and HR and 95%CI values in cox proportional hazards regression analysis for the associations between genetic factors and clinical characteristics of X-ALD.'}, {'measure': 'The associations between genetic factors and outcomes of Chinese X-ALD patients', 'timeFrame': '5 years', 'description': 'β coefficient and 95%CI values in linear regression, OR and 95%CI values in logistic regression analysis, and HR and 95%CI values in cox proportional hazards regression analysis for the associations between genetic factors and outcomes of X-ALD.'}, {'measure': 'The associations between genetic factors and imaging characteristics of Chinese X-ALD patients', 'timeFrame': '5 years', 'description': 'β coefficient and 95%CI values in linear regression, OR and 95%CI values in logistic regression analysis, and HR and 95%CI values in cox proportional hazards regression analysis for the associations between genetic factors and imaging characteristics of X-ALD.'}, {'measure': 'The associations between genetic factors and the long-term changes of imaging characteristics of Chinese X-ALD patients', 'timeFrame': '5 years', 'description': 'β coefficient and 95%CI values in linear regression, OR and 95%CI values in logistic regression analysis, and HR and 95%CI values in cox proportional hazards regression analysis for the associations between genetic factors and the long-term changes of imaging characteristics of X-ALD.'}]}, 'oversightModule': {'oversightHasDmc': True, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['X-linked Adrenoleukodystrophy', 'Genetic data', 'Phenotype', 'Imaging feature', 'Mechanism'], 'conditions': ['X-linked Adrenoleukodystrophy']}, 'descriptionModule': {'briefSummary': 'This study is a observational study conducted through recruiting X-linked adrenoleukodystrophy (X-ALD) patients, to build a comprehensive evaluation and long-term follow-up platform for X-ALD patients, and to provide a theoretical basis for the treatment and management of X-ALD patients.', 'detailedDescription': 'In this study, X-ALD patients will be selected as study participants. Through a longitudinal collection of genetic, imaging and clinical symptoms data of the patients and carriers. The purpose of this study is to build a comprehensive evaluation and long-term follow-up platform for X-ALD patients. Through the long-term follow-up of imaging and clinical symptoms progress and outcome of X-ALD patients, combined with genetic data, we will improve the relationships between genes and phenotypes, and explore the deep insight in the pathophysiological mechanism of X-ALD, to provide a theoretical basis for the treatment and management of X-ALD patients.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'maximumAge': '70 Years', 'minimumAge': '6 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'X-linked adrenoleukodystrophy patients, and age,sex and education matched healthy carriers will be recruited from the hospital.', 'healthyVolunteers': True, 'eligibilityCriteria': "Inclusion Criteria:\n\nX-ALD group：\n\n* Meet the diagnostic criteria of X-ALD and supported by the results of genetic and very long chain fatty acid (VLCFA) test;\n* Age: 6 - 70 years old;\n* Able to communicate normally, and complete the test of scale as instructed (confirmed by the field test of scale);\n* Sign the informed consent.\n\nCarrier-control group:\n\nHealthy people who have no significant difference in age, sex and education comparing with the X-ALD group, volunteer to participate in this study, could complete the test of scale as instructed, and meet the following criteria:\n\n* Eligible for asymptomatic carriers in genetic tests (preference of patient's mother and close relatives);\n* Age: 6 - 70 years old, able to complete the test of scale as instructed (confirmed by the field test of scale);\n* No history of psychiatric diseases.\n\nExclusion Criteria:\n\n* Other hereditary diseases;\n* Other severe central nervous diseases;\n* History of surgery of brain or eye;\n* Psychiatric and psychological diseases, such as anxiety and depression;\n* Metal foreign body or prosthesis in the human body (such as pacemaker and insulin pump), claustrophobia, and other MRI contraindications;\n* History of surgery associated with gastrointestinal tract;\n* No informed consent;\n* Unable to tolerate MRI or eye related tests."}, 'identificationModule': {'nctId': 'NCT05939232', 'briefTitle': 'Registry of X-linked Adrenoleukodystrophy', 'organization': {'class': 'OTHER', 'fullName': 'Beijing Tiantan Hospital'}, 'officialTitle': 'Registry of X-linked Adrenoleukodystrophy', 'orgStudyIdInfo': {'id': 'KY2023-011-02'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'X-ALD', 'description': 'X-linked adrenoleukodystrophy (X-ALD) patients.'}, {'label': 'Carrier-control (CC)', 'description': 'Carriers of mutation in gene encoding ATP-binding cassette subfamily D member 1 (ABCD1), who have no X-linked adrenoleukodystrophy and are matched with the X-ALD group according to age, sex and education.'}]}, 'contactsLocationsModule': {'locations': [{'zip': '100050', 'city': 'Beijing', 'status': 'RECRUITING', 'country': 'China', 'contacts': [{'name': 'Yilong Wang, MD,PhD', 'role': 'CONTACT', 'email': 'yilong538@gmail.com'}, {'name': 'yilong wang, M.D.', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Beijing Tiantan Hospital', 'geoPoint': {'lat': 39.9075, 'lon': 116.39723}}], 'centralContacts': [{'name': 'Yilong Wang, MD, PhD', 'role': 'CONTACT', 'email': 'yilong528@aliyun.com', 'phone': '0086-010-67092222'}], 'overallOfficials': [{'name': 'Yilong Wang, MD,PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Beijing Tiantan Hospital, Capital Medical University, Beijing, China'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Beijing Tiantan Hospital', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Vice President of Beijing Tiantan Hospital', 'investigatorFullName': 'yilong Wang', 'investigatorAffiliation': 'Beijing Tiantan Hospital'}}}}