Ignite Creation Date:
2025-12-24 @ 4:51 PM
Ignite Modification Date:
2026-01-25 @ 5:46 AM
Study NCT ID:
NCT01963650
Status:
TERMINATED
Last Update Posted:
2021-03-17
First Post:
2013-10-11
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Natural History Study of Children With Metachromatic Leukodystrophy
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24', 'removedCountries': ['Colombia', 'Israel']}, 'conditionBrowseModule': {'meshes': [{'id': 'D052439', 'term': 'Lipid Metabolism Disorders'}, {'id': 'D007966', 'term': 'Leukodystrophy, Metachromatic'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D003711', 'term': 'Demyelinating Diseases'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D013106', 'term': 'Sphingolipidoses'}, {'id': 'D020279', 'term': 'Hereditary Central Nervous System Demyelinating Diseases'}, {'id': 'D020739', 'term': 'Brain Diseases, Metabolic, Inborn'}, {'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D052516', 'term': 'Sulfatidosis'}], 'ancestors': [{'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D001928', 'term': 'Brain Diseases, Metabolic'}, {'id': 'D020140', 'term': 'Lysosomal Storage Diseases, Nervous System'}, {'id': 'D056784', 'term': 'Leukoencephalopathies'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008064', 'term': 'Lipidoses'}, {'id': 'D008052', 'term': 'Lipid Metabolism, Inborn Errors'}, {'id': 'D020271', 'term': 'Heredodegenerative Disorders, Nervous System'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Sample for genotype testing is collected and any remaining sample is retained for follow up or repeat testing. The sample is not retained for unspecified additional testing.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 1}, 'patientRegistry': False}, 'statusModule': {'whyStopped': 'Enrollment issues', 'overallStatus': 'TERMINATED', 'startDateStruct': {'date': '2015-11-02', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2021-03', 'completionDateStruct': {'date': '2016-04-08', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2021-03-16', 'studyFirstSubmitDate': '2013-10-11', 'studyFirstSubmitQcDate': '2013-10-11', 'lastUpdatePostDateStruct': {'date': '2021-03-17', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2013-10-16', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2016-04-08', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'The primary endpoint of this study is the change from baseline in motor function using the GMFM-88 total (percent) score.', 'timeFrame': 'Week 0 to Week 104'}], 'secondaryOutcomes': [{'measure': 'The change from baseline in ability to swallow as assessed by the Functional Endoscopic Evaluation of Swallowing.', 'timeFrame': 'Week 0 to Week 104'}, {'measure': 'The change from baseline in nerve conduction as measured by the electroneurography.', 'timeFrame': 'Week 0 to Week 104'}, {'measure': 'The change from baseline in the adaptive behavior composite standard score as measured by the Vineland Adaptive Behavior Scales.', 'timeFrame': 'Week 0 to Week 104'}, {'measure': 'The change from baseline in domain-specific Caregiver Observed MLD Functioning and Outcomes Reporting Tool.', 'timeFrame': 'Week 0 to Week 104'}, {'measure': 'The change from baseline in cognitive function using the Mullen Scales of Early Learning.', 'timeFrame': 'Week 0 to Week 104'}, {'measure': 'Reporting of any study procedure-related nonserious AEs and/or any SAEs', 'timeFrame': 'Week 0 to Week 114'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'conditions': ['Lipid Metabolism Disorders', 'Metachromatic Leukodystrophy (MLD)', 'Nervous System Diseases', 'Brain Diseases', 'Central Nervous System Diseases', 'Demyelinating Diseases', 'Metabolism, Inborn Errors', 'Genetic Diseases, Inborn', 'Sphingolipidoses', 'Hereditary Central Nervous System Demyelinating Diseases', 'Metabolic Inborn Brain Diseases', 'Lysosomal Storage Diseases', 'Metabolic Diseases', 'Sulfatidosis']}, 'referencesModule': {'seeAlsoLinks': [{'url': 'https://clinicaltrials.takeda.com/study-detail/5f6b5fce4db2bf003ab467b3', 'label': 'To obtain more information on the study, click here/on this link.'}]}, 'descriptionModule': {'briefSummary': 'The purpose of this study is evaluate the natural course of disease progression related to gross motor function in children with metachromatic leukodystrophy (MLD).', 'detailedDescription': 'Metachromatic leukodystrophy (MLD) is an inherited, autosomal recessive disorder of lipid metabolism characterized by deficient activity of the lysosomal enzyme, arylsulfatase A (ASA). MLD is a rare genetic disease that occurs in most parts of the world. The estimated overall incidence of the disease in the western world is approximately 1 in 100,000 live births.\n\nThis study is a multicenter, observational, longitudinal study that plans to enroll up to 30 patients with onset of MLD-related signs and symptoms prior to 30 months of age and who are less than 12 years of age. Patients will participate in this study for approximately 114 weeks (Screening through Follow-up) and will be assessed at defined intervals for disease status.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD'], 'maximumAge': '12 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'This study will enroll up to 30 male or female children (\\<12 years of age) with a confirmed MLD diagnosis.', 'healthyVolunteers': False, 'eligibilityCriteria': "Inclusion Criteria:\n\n1. Confirmed diagnosis of MLD by both:\n\n * arylsulfatase A (ASA) deficiency by assay in leukocytes AND\n * elevated sulfatide in urine\n2. Appearance of the first symptoms of disease at or before 30 months of age.\n3. A GMFM-88 total (percent) score greater than or equal to 40 at the screening examination.\n4. The patient is less than 12 years of age at the time of enrollment.\n5. The patient and his/her parent or legally authorized representative(s) must have the ability to comply with the clinical protocol.\n6. Patient's parent or legally authorized representative(s) must provide written informed consent prior to performing any study-related activities. Study-related activities are any procedures that would not have been performed during normal management of the patient.\n\nExclusion Criteria:\n\n1. History of hematopoietic stem cell transplantation.\n2. The patient has any known or suspected hypersensitivity to agents used for anesthesia or is thought to be at an unacceptably high risk for associated potential complications of airway compromise or other conditions.\n3. Any other medical condition, serious intercurrent illness, or extenuating circumstance that, in the opinion of the Investigator, would preclude participation in the study.\n4. The patient is enrolled in another clinical study that involves the use of any investigational product (drug or device) within 30 days prior to study enrollment or at any time during the study."}, 'identificationModule': {'nctId': 'NCT01963650', 'briefTitle': 'Natural History Study of Children With Metachromatic Leukodystrophy', 'organization': {'class': 'INDUSTRY', 'fullName': 'Takeda'}, 'officialTitle': 'Natural History Study of Children With Metachromatic Leukodystrophy', 'orgStudyIdInfo': {'id': 'HGT-MLD-092'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'No treatment'}]}, 'contactsLocationsModule': {'locations': [{'zip': '90502', 'city': 'Torrance', 'state': 'California', 'country': 'United States', 'facility': 'Harbor UCLA Pediatrics', 'geoPoint': {'lat': 33.83585, 'lon': -118.34063}}, {'zip': '20010', 'city': 'Washington D.C.', 'state': 'District of Columbia', 'country': 'United States', 'facility': "Children's National Health System", 'geoPoint': {'lat': 38.89511, 'lon': -77.03637}}, {'zip': '60611', 'city': 'Chicago', 'state': 'Illinois', 'country': 'United States', 'facility': "Ann & Robert H. Lurie Children's Hospital of Chicago", 'geoPoint': {'lat': 41.85003, 'lon': -87.65005}}, {'zip': '15224', 'city': 'Pittsburgh', 'state': 'Pennsylvania', 'country': 'United States', 'facility': "Children's Hospital Of Pittsburgh", 'geoPoint': {'lat': 40.44062, 'lon': -79.99589}}, {'zip': 'B1629ODT', 'city': 'Pilar', 'country': 'Argentina', 'facility': 'Hospital Universitario Austral', 'geoPoint': {'lat': -34.45867, 'lon': -58.91398}}, {'zip': '2650', 'city': 'Edegem', 'country': 'Belgium', 'facility': 'Universitair Ziekenhuis Antwerpen (UZA) (University Hospital Antwerpen)', 'geoPoint': {'lat': 51.15662, 'lon': 4.44504}}, {'zip': '90035-003', 'city': 'Porto Alegre', 'country': 'Brazil', 'facility': 'Hospital de Cllnicas de Porto Alegre (HCPA) / UFRGS', 'geoPoint': {'lat': -30.03283, 'lon': -51.23019}}, {'zip': 'H3Z 2Z3', 'city': 'Westmount', 'country': 'Canada', 'facility': "Montreal Children's Hospital", 'geoPoint': {'lat': 45.48341, 'lon': -73.59918}}, {'zip': '2100', 'city': 'Copenhagen', 'country': 'Denmark', 'facility': 'Copenhagen University Hospital, Rigshospitalet', 'geoPoint': {'lat': 55.67594, 'lon': 12.56553}}, {'zip': '94275', 'city': 'Le Kremlin-Bicêtre', 'country': 'France', 'facility': 'Hôpital De Bicêtre', 'geoPoint': {'lat': 48.81471, 'lon': 2.36073}}, {'zip': '72076', 'city': 'Tübingen', 'country': 'Germany', 'facility': 'Univesitatsklinikum Tubingen Klinik fur Kinder und Jugendmedizin', 'geoPoint': {'lat': 48.52266, 'lon': 9.05222}}, {'zip': '565-0871', 'city': 'Osaka', 'country': 'Japan', 'facility': 'Faculty Of Medicine, Osaka University Graduate School Of Medicine', 'geoPoint': {'lat': 34.69379, 'lon': 135.50107}}, {'zip': '105-8461', 'city': 'Tokyo', 'country': 'Japan', 'facility': 'The Jikei University School Of Medicine - Institute Of Dna Medicine', 'geoPoint': {'lat': 35.6895, 'lon': 139.69171}}, {'zip': '6100', 'city': 'Ankara', 'country': 'Turkey (Türkiye)', 'facility': 'Hacettepe Universitesi Tip Fakultesi Onkoloji Hastanesi', 'geoPoint': {'lat': 39.91987, 'lon': 32.85427}}], 'overallOfficials': [{'name': 'Study Director', 'role': 'STUDY_DIRECTOR', 'affiliation': 'Takeda'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Shire', 'class': 'INDUSTRY'}, 'responsibleParty': {'type': 'SPONSOR'}}}}