Ignite Creation Date:
2025-12-24 @ 10:35 PM
Ignite Modification Date:
2026-01-23 @ 9:45 PM
Study NCT ID:
NCT00113035
Status:
COMPLETED
Last Update Posted:
2015-05-05
First Post:
2005-06-03
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Screening Protocol to Evaluate Acid Alpha-Glucosidase (GAA) Activity and GAA Gene Mutations in Patients With Late Onset Pompe Disease
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D006009', 'term': 'Glycogen Storage Disease Type II'}], 'ancestors': [{'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': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D006008', 'term': 'Glycogen Storage Disease'}, {'id': 'D002239', 'term': 'Carbohydrate Metabolism, Inborn Errors'}, {'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE'}, 'enrollmentInfo': {'count': 60}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2005-05'}, 'statusVerifiedDate': '2015-05', 'completionDateStruct': {'date': '2005-10', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2015-05-04', 'studyFirstSubmitDate': '2005-06-03', 'studyFirstSubmitQcDate': '2005-06-03', 'lastUpdatePostDateStruct': {'date': '2015-05-05', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2005-06-06', 'type': 'ESTIMATED'}}, 'conditionsModule': {'keywords': ['Glycogen Storage Disease Type II', 'GSD-II', 'Pompe Disease', 'Pompe Disease (Late-Onset)', 'Glycogen Storage Disease Type II (GSD-II)', 'Acid Maltase Deficiency', 'Glycogenosis 2'], 'conditions': ['Pompe Disease']}, 'descriptionModule': {'briefSummary': "Pompe disease (also known as glycogen storage disease type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures called lysosomes. In patients with Pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. The primary objective of this study is to identify potential candidates for future clinical studies in Pompe disease."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '8 Years', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Must provide written informed consent prior to any study-related procedures being performed\n* Clinical presentation consistent with late-onset Pompe disease, or a current clinical diagnosis of late-onset Pompe disease\n* Must be greater than or equal to 8 years of age\n* Must be able to ambulate (use of assistive devices, such as a walker, cane or crutches, is permitted)\n\nExclusion Criteria:\n\n* Requires the use of invasive ventilatory support\n* Requires the use of noninvasive ventilatory support while awake and in an upright position\n* Use of any investigational product within 30 days prior to study enrollment\n* Unwillingness to comply with protocol requirements\n* Has clinically significant organic disease, unstable medical condition, serious or intercurrent illness\n* Is pregnant or lactating\n* Has participated in the Prospective Observational Study in Patients with Late-Onset Pompe Disease (AGLU02303, "LOPOS")'}, 'identificationModule': {'nctId': 'NCT00113035', 'briefTitle': 'Screening Protocol to Evaluate Acid Alpha-Glucosidase (GAA) Activity and GAA Gene Mutations in Patients With Late Onset Pompe Disease', 'organization': {'class': 'INDUSTRY', 'fullName': 'Sanofi'}, 'officialTitle': 'Screening Protocol to Evaluate Acid Alpha Glucosidase (GAA) Activity and GAA Gene Mutations in Patients With Late Onset Pompe Disease for Potential Inclusion in Future Clinical Studies With Myozyme (Alglucosidase Alfa)', 'orgStudyIdInfo': {'id': 'AGLU02905'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Patients with late onset Pompe Disease'}]}, 'contactsLocationsModule': {'locations': [{'zip': '90211', 'city': 'Beverly Hills', 'state': 'California', 'country': 'United States', 'facility': 'Tower Hematology/Oncology Medical Group', 'geoPoint': {'lat': 34.07362, 'lon': -118.40036}}, {'zip': '20010', 'city': 'Washington D.C.', 'state': 'District of Columbia', 'country': 'United States', 'facility': "Children's National Medical Center", 'geoPoint': {'lat': 38.89511, 'lon': -77.03637}}, {'zip': '63110', 'city': 'St Louis', 'state': 'Missouri', 'country': 'United States', 'facility': 'Washington University Medical Center', 'geoPoint': {'lat': 38.62727, 'lon': -90.19789}}, {'zip': '10029', 'city': 'New York', 'state': 'New York', 'country': 'United States', 'facility': 'Mount Sinai School of Medicine', 'geoPoint': {'lat': 40.71427, 'lon': -74.00597}}, {'zip': '15213', 'city': 'Pittsburgh', 'state': 'Pennsylvania', 'country': 'United States', 'facility': 'University of Pittsburgh Medical Center', 'geoPoint': {'lat': 40.44062, 'lon': -79.99589}}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Genzyme, a Sanofi Company', 'class': 'INDUSTRY'}}}}