Ignite Creation Date:
2025-12-25 @ 12:40 AM
Ignite Modification Date:
2025-12-27 @ 9:09 AM
Study NCT ID:
NCT04965467
Status:
WITHDRAWN
Last Update Posted:
2021-09-30
First Post:
2021-07-08
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Fabry Aim Children Early (ACE) Project
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D000795', 'term': 'Fabry Disease'}], 'ancestors': [{'id': 'D013106', 'term': 'Sphingolipidoses'}, {'id': 'D020140', 'term': 'Lysosomal Storage Diseases, Nervous System'}, {'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': 'D059345', 'term': 'Cerebral Small Vessel Diseases'}, {'id': 'D002561', 'term': 'Cerebrovascular Disorders'}, {'id': 'D014652', 'term': 'Vascular Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D040181', 'term': 'Genetic Diseases, X-Linked'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D008064', 'term': 'Lipidoses'}, {'id': 'D008052', 'term': 'Lipid Metabolism, Inborn Errors'}, {'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D052439', 'term': 'Lipid Metabolism Disorders'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D008403', 'term': 'Mass Screening'}], 'ancestors': [{'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}, {'id': 'D006306', 'term': 'Health Surveys'}, {'id': 'D011795', 'term': 'Surveys and Questionnaires'}, {'id': 'D003625', 'term': 'Data Collection'}, {'id': 'D004812', 'term': 'Epidemiologic Methods'}, {'id': 'D008919', 'term': 'Investigative Techniques'}, {'id': 'D003954', 'term': 'Diagnostic Services'}, {'id': 'D011314', 'term': 'Preventive Health Services'}, {'id': 'D006296', 'term': 'Health Services'}, {'id': 'D005159', 'term': 'Health Care Facilities Workforce and Services'}, {'id': 'D017531', 'term': 'Health Care Evaluation Mechanisms'}, {'id': 'D011787', 'term': 'Quality of Health Care'}, {'id': 'D017530', 'term': 'Health Care Quality, Access, and Evaluation'}, {'id': 'D011634', 'term': 'Public Health'}, {'id': 'D004778', 'term': 'Environment and Public Health'}, {'id': 'D015980', 'term': 'Public Health Practice'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Whole blood'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'OTHER'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 0}, 'patientRegistry': False}, 'statusModule': {'whyStopped': 'Withdrawn due to financial reasons', 'overallStatus': 'WITHDRAWN', 'startDateStruct': {'date': '2021-07-27', 'type': 'ESTIMATED'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2021-09', 'completionDateStruct': {'date': '2022-02-28', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2021-09-24', 'studyFirstSubmitDate': '2021-07-08', 'studyFirstSubmitQcDate': '2021-07-08', 'lastUpdatePostDateStruct': {'date': '2021-09-30', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2021-07-16', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2022-02-20', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'The proportion of Fabry disease', 'timeFrame': 'at the enrollment', 'description': 'The proportion of Fabry Disease in a defined population at risk'}], 'secondaryOutcomes': [{'measure': 'The proportion of Fabry disease in predefined sub-populations', 'timeFrame': 'at the enrollment', 'description': 'The proportion of Fabry Disease in a defined population at risk'}, {'measure': 'The time between symptom onset and diagnosis', 'timeFrame': 'at the enrollment', 'description': 'The time between symptom onset and diagnosis'}]}, 'oversightModule': {'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Fabry Disease']}, 'descriptionModule': {'briefSummary': 'The purpose of this study is to assess the frequency of Fabry disease in children with early symptoms.', 'detailedDescription': 'Fabry disease is a complex, multisystemic and clinically heterogeneous disease that commonly presents in childhood and is caused by deficient activity of the lysosomal enzyme alpha-galactosidaseA (α-gal A). Symptoms of Fabry disease in the pediatric population are well described. Symptoms can occur in early childhood, before age 5 years. Incidence estimations of Fabry disease vary widely. The true incidence is likely to be higher than originally thought, owing to the existence of milder variants of the disease. The purpose of this study is to assess the frequency of Fabry disease in children with early symptoms. Patients would benefit from early diagnosis, appropriate treatment, follow-up and surveillance. Early detection of Fabry patients would also benefit affected relatives, many of whom do not have a clear diagnosis of their clinical condition.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '18 Years', 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'Patients with fabry disease-associated phenotypes in infancy, childhood and adolescence: pain in the hands and feet, angiokeratomas, hypohidrosis, corneal whorls, unexplained renal failure, unexplained hypertrophic myocardiopathy and unexplained early onset stroke.', 'healthyVolunteers': False, 'eligibilityCriteria': "Inclusion Criteria:\n\n* Patients with fabry disease-associated phenotypes in infancy, childhood and adolescence: pain in the hands and feet, angiokeratomas, hypohidrosis, corneal whorls, unexplained renal failure, unexplained hypertrophic myocardiopathy and unexplained early onset stroke.\n\nExclusion Criteria:\n\n* Patient's parent(s) or legal guardian(s) are unable to understand the nature, scope, and possible consequences of the screening."}, 'identificationModule': {'nctId': 'NCT04965467', 'briefTitle': 'Fabry Aim Children Early (ACE) Project', 'organization': {'class': 'OTHER', 'fullName': "Children's Hospital of Fudan University"}, 'officialTitle': 'Fabry Aim Children Early (ACE) Project-Screening for Fabry Disease in a Pediatric Population at Risk', 'orgStudyIdInfo': {'id': 'ACE'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Screening population', 'description': 'Screening for Fabry disease with early symptoms', 'interventionNames': ['Diagnostic Test: Screening for Fabry disease']}], 'interventions': [{'name': 'Screening for Fabry disease', 'type': 'DIAGNOSTIC_TEST', 'description': 'A questionnaire specifically designed to assess Fabry disease-associated phenotypes in infancy, childhood and adolescence: pain in the hands and feet, angiokeratomas, hypohidrosis, corneal whorls, unexplained renal failure, unexplained hypertrophic myocardiopathy and unexplained early onset stroke. The questionnaire consisted mainly of quantitative, closed questions with pre- defined response options.The diagnosis of FD will be performed by standard procedures following international recommendations. These require the search for a deficiency of alphagalactosidase A activity on leucocytes in males and genetic analysis of the GLA gene in females (Germain et al. 2010). In females plasma Gb3, globotriaosyl- sphingosine (lyso-Gb3) will be measured for screening.', 'armGroupLabels': ['Screening population']}]}, 'contactsLocationsModule': {'locations': [{'city': 'Hefei', 'state': 'Anhui', 'country': 'China', 'facility': "Anhui Provincial Children's Hospital", 'geoPoint': {'lat': 31.86389, 'lon': 117.28083}}, {'city': 'Beijing', 'state': 'Beijing Municipality', 'country': 'China', 'facility': "Beijing children's hospital，capital medical university", 'geoPoint': {'lat': 39.9075, 'lon': 116.39723}}, {'city': 'Chongqing', 'state': 'Chongqing Municipality', 'country': 'China', 'facility': "Children's Hospital of Chongqing Medical University", 'geoPoint': {'lat': 29.56026, 'lon': 106.55771}}, {'city': 'Guangzhou', 'state': 'Guangzhou', 'country': 'China', 'facility': 'First Affiliated Hospital, Sun Yat-Sen University', 'geoPoint': {'lat': 23.11667, 'lon': 113.25}}, {'city': 'Hebei', 'state': 'Hebei', 'country': 'China', 'facility': "Children's Hospital of Hebei Province", 'geoPoint': {'lat': 40.93364, 'lon': 118.60886}}, {'city': 'Zhengzhou', 'state': 'Henan', 'country': 'China', 'facility': "Children's Hospital Affiliated to Zhengzhou University/Henan Children's Hospital", 'geoPoint': {'lat': 34.75778, 'lon': 113.64861}}, {'city': 'Wuhan', 'state': 'Hubei', 'country': 'China', 'facility': "Wuhan Children's Hospital,Tongji Medical College, Huazhong University of Science and Technology.", 'geoPoint': {'lat': 30.58333, 'lon': 114.26667}}, {'city': 'Hunan', 'state': 'Hunan', 'country': 'China', 'facility': "Hunan Children's Hospital"}, {'city': 'Hohhot', 'state': 'Inner Mongolia', 'country': 'China', 'facility': 'Inner Mongolia Maternity and Child Healthcare Hospital', 'geoPoint': {'lat': 40.81056, 'lon': 111.65222}}, {'city': 'Nanjing', 'state': 'Jiangsu', 'country': 'China', 'facility': "Children's Hospital of Nanjing Medical University", 'geoPoint': {'lat': 32.06167, 'lon': 118.77778}}, {'city': 'Kunming', 'state': 'Kunming', 'country': 'China', 'facility': "Kunming Children's Hospital", 'geoPoint': {'lat': 25.03889, 'lon': 102.71833}}, {'city': 'Shandong', 'state': 'Shandong', 'country': 'China', 'facility': 'Shandong Provincal Hospital'}, {'city': 'Shanxi', 'state': 'Shanxi', 'country': 'China', 'facility': "Shanxi Provincial Maternity and Children's Hospital"}, {'city': 'Chengdu', 'state': 'Sichuan', 'country': 'China', 'facility': 'West China Second University Hospital, Sichuan University', 'geoPoint': {'lat': 30.66667, 'lon': 104.06667}}, {'city': 'Sichuan', 'state': 'Sichuan', 'country': 'China', 'facility': 'Sichuan provincial maternity and child health care hospital'}, {'city': 'Tianjin', 'state': 'Tianjin Municipality', 'country': 'China', 'facility': "Tianjin Children's Hospital", 'geoPoint': {'lat': 39.14222, 'lon': 117.17667}}, {'city': 'Xiamen', 'state': 'Xiamen', 'country': 'China', 'facility': 'Xiamen Maternal and Child Care Hospital', 'geoPoint': {'lat': 24.47979, 'lon': 118.08187}}, {'city': "Xi'an", 'state': 'Xian', 'country': 'China', 'facility': "Xian Children's Hospital", 'geoPoint': {'lat': 34.25833, 'lon': 108.92861}}, {'city': 'Xinjiang', 'state': 'Xinjiang', 'country': 'China', 'facility': "Xinjiang Urumqi Children's Hospital.", 'geoPoint': {'lat': 40.91904, 'lon': 110.38311}}, {'city': 'Hangzhou', 'state': 'Zhejiang', 'country': 'China', 'facility': "The Children's Hospital of Zhejiang University School of Medicine", 'geoPoint': {'lat': 30.29365, 'lon': 120.16142}}, {'zip': '201102', 'city': 'Shanghai', 'country': 'China', 'facility': "Children's Hospital of Fudan University", 'geoPoint': {'lat': 31.22222, 'lon': 121.45806}}]}, 'ipdSharingStatementModule': {'ipdSharing': 'UNDECIDED'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': "Children's Hospital of Fudan University", 'class': 'OTHER'}, 'collaborators': [{'name': "Children's Hospital of Nanjing Medical University", 'class': 'OTHER'}, {'name': "The Children's Hospital of Zhejiang University School of Medicine", 'class': 'OTHER'}, {'name': 'Union Hospital, Tongji Medical College, Huazhong University of Science and Technology', 'class': 'OTHER'}, {'name': "Children's Hospital Affiliated to Zhengzhou University/Henan Children's Hospital", 'class': 'UNKNOWN'}, {'name': "Anhui Provincial Children's Hospital", 'class': 'OTHER'}, {'name': "Beijing Children's Hospital", 'class': 'OTHER'}, {'name': "Tianjin Children's Hospital", 'class': 'OTHER'}, {'name': "Children's Hospital of Hebei Province", 'class': 'OTHER'}, {'name': "Shanxi Provincial Maternity and Children's Hospital", 'class': 'OTHER'}, {'name': 'Xiamen Maternal and Child Care Hospital', 'class': 'UNKNOWN'}, {'name': 'First Affiliated Hospital, Sun Yat-Sen University', 'class': 'OTHER'}, {'name': "Children's Hospital of Chongqing Medical University", 'class': 'OTHER'}, {'name': 'West China Second University Hospital', 'class': 'OTHER'}, {'name': "Kunming Children's Hospital", 'class': 'OTHER'}, {'name': "Xian Children's Hospital", 'class': 'OTHER_GOV'}, {'name': 'Shandong Provincial Hospital', 'class': 'OTHER_GOV'}, {'name': "Xinjiang Urumqi Children's Hospital.", 'class': 'UNKNOWN'}, {'name': "Hunan Children's Hospital", 'class': 'OTHER_GOV'}, {'name': 'Inner Mongolia Maternal and Child Healthcare Hospital', 'class': 'UNKNOWN'}, {'name': 'Sichuan provincial maternity and child health care hospital', 'class': 'UNKNOWN'}], 'responsibleParty': {'type': 'SPONSOR'}}}}