Ignite Creation Date:
2025-12-24 @ 10:10 PM
Ignite Modification Date:
2026-01-01 @ 2:12 AM
Study NCT ID:
NCT04986735
Status:
UNKNOWN
Last Update Posted:
2021-08-16
First Post:
2021-07-27
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Prospective Cohort Study of Children With GSD1b Receiving Empagliflozin
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'C562594', 'term': 'Glycogen Storage Disease IB'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'C570240', 'term': 'empagliflozin'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 11}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'RECRUITING', 'startDateStruct': {'date': '2021-08-08', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2021-08', 'completionDateStruct': {'date': '2023-12-31', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2021-08-08', 'studyFirstSubmitDate': '2021-07-27', 'studyFirstSubmitQcDate': '2021-07-27', 'lastUpdatePostDateStruct': {'date': '2021-08-16', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2021-08-03', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2022-12-31', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Efficacy of empagliflozin - usage of granulocyte colony stimulating factor (GCSF)', 'timeFrame': 'from the start to the 52nd week of empagliflozin treatment', 'description': 'Dosage and frequency of administration of GCSF'}], 'secondaryOutcomes': [{'measure': 'Efficacy of empagliflozin - neutrophil number and function', 'timeFrame': 'from the start to the 52nd week of empagliflozin treatment', 'description': 'Average neutrophil count and neutrophil oxidative burst'}, {'measure': 'Efficacy of empagliflozin - bowel manifestations', 'timeFrame': 'from the start to the 52nd week of empagliflozin treatment', 'description': 'Severity of bowel inflammation, diarrhea, and aphthous ulcers'}, {'measure': 'Efficacy of empagliflozin - frequency of infections', 'timeFrame': 'from the start to the 52nd week of empagliflozin treatment', 'description': 'Number of infections requiring hospitalization and antibiotics/surgical intervention'}, {'measure': 'Efficacy of empagliflozin - biochemical improvement', 'timeFrame': 'from the start to the 52nd week of empagliflozin treatment', 'description': 'Blood 1,5-anhydroglucitol level and urine glucose excretion'}, {'measure': 'General metabolic control - GSD1b metabolic & imaging profile, concomitant interventions', 'timeFrame': 'from the start to the 52nd week of empagliflozin treatment', 'description': 'Metabolic profile and concomitant interventions that reflects metabolic control of GSD1b'}, {'measure': 'General well being - Quality of life', 'timeFrame': 'from the start to the 52nd week of empagliflozin treatment', 'description': 'Pediatric Quality of Life Inventory™ (PedsQL™) - English or Cantonese/Chinese versions'}, {'measure': 'Safety of empagliflozin - presence or absence of hypoglycemia', 'timeFrame': 'from the start to the 52nd week of empagliflozin treatment', 'description': 'Frequency of symptomatic or severe hypoglycemia, average glucose levels'}, {'measure': 'Safety of empagliflozin - prescence of absence of empagliflozin-related side effects', 'timeFrame': 'from the start to the 52nd week of empagliflozin treatment', 'description': 'number of empagliflozin-related adverse events'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': True, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Glycogen Storage Disease Type IB']}, 'descriptionModule': {'briefSummary': 'This is a prospective cohort study of children with GSD1b to evaluate their outcome after using empagliflozin for neutrophil defects.', 'detailedDescription': 'Glycogen Storage Disease Type 1b (GSD1b) is an ultra-rare inborn error of carbohydrate metabolism, characterized by low neutrophil count, neutrophil dysfunction, and the associated recurrent infections and inflammatory bowel conditions.\n\nThe current standard treatment with granulocyte colony-stimulating factor (GCSF) only increases neutrophil count but does not improve neutrophil function. It achieves only partial clinical response. Fever, recurrent infections, and gastrointestinal upset remain significant problems. Long-term regular GCSF injection is needed to sustain the clinical effect, but is also associated with development of serious complications including massive spleen enlargement, acute myeloid leukemia and myelodysplastic syndrome.\n\nAccumulation of a toxic metabolite called 1,5-anhydroglucitol-6-phosphate (1,5AG6P) is recently discovered as the cause of neutrophil problems in GSD1b. Empagliflozin, a sodium-glucose co-transporter 2 (SGLT2) inhibitor widely used as anti-diabetic drug, is known to promote excretion of 1,5-anhydroglucitol (1,5AG) in kidney. Since 1,5AG is the precursor of 1,5AG6P, empagliflozin also reduces the accumulation of 1,5AG6P. This is confirmed by animal studies that empagliflozin is shown to improve neutrophil count and function in GSD1b mouse model. Similar benefits are also recently reported in human cases (3 adults and 2 children with GSD1b), that GCSF dose could be significantly reduced or even stopped.\n\nThis is a prospective cohort study of children with GSD1b to examine their outcome after receiving empagliflozin treatment. The objective is to evaluate the short to medium term safety and efficacy of empagliflozin. The ultimate goal is to assess if SGLT2 inhibitor could be an effective alternative of GCSF with less side effects and risks, and to improve the clinical outcomes and quality of life for patients and families with GSD1b.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '18 Years', 'minimumAge': '6 Months', 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'GSD 1b patients (aged 6 months to 18 years) with diagnosis confirmed by enzymatic and/or genetic analysis, and has been on regular GCSF treatment for \\>= 1 month', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n\\- Subject (aged 6 months to 18 years) is enzymatically/genetically confirmed to have GSD 1b and has been on regular GCSF treatment for \\>= 1 month\n\nExclusion Criteria:\n\n* Subject fails to provide relevant background medical information, or comply with all requirements of the clinical trial, or sign the informed consent\n* Subject has any co-morbidity or condition that could increase the risk of empagliflozin treatment (e.g. renal failure with eGFR \\<30 mL/min/1.73m2 or requiring dialysis, diabetes requiring insulin \\&/or oral hypoglycemic agents, dyslipidemia requiring pharmacological intervention)\n* Subject is pregnant, or a sexually active female who does not consent to use effective contraception during the study\n* History of liver transplantation is NOT an exclusion criterium'}, 'identificationModule': {'nctId': 'NCT04986735', 'briefTitle': 'Prospective Cohort Study of Children With GSD1b Receiving Empagliflozin', 'organization': {'class': 'OTHER', 'fullName': "Hong Kong Children's Hospital"}, 'officialTitle': 'Evaluation of Safety and Efficacy of Empagliflozin for Neutropenia and Neutrophil Dysfunction in Children With Glycogen Storage Disease Type 1b (GSD1b)', 'orgStudyIdInfo': {'id': 'KWOK-HKCH-GSD1-EMPA'}}, 'armsInterventionsModule': {'interventions': [{'name': 'Empagliflozin', 'type': 'DRUG', 'otherNames': ['Jardiance'], 'description': 'All subjects will have a baseline assessment and be prospectively followed up for 52 weeks to examine their outcome after receiving empagliflozin for neutropenia and neutrophil dysfunction.'}]}, 'contactsLocationsModule': {'locations': [{'city': 'Hong Kong', 'status': 'RECRUITING', 'country': 'Hong Kong', 'contacts': [{'name': 'MEI KWUN KWOK, MB,BS', 'role': 'CONTACT', 'email': 'kwokmk@ha.org.hk', 'phone': '852-57413216'}], 'facility': "Hong Kong Children's Hospital", 'geoPoint': {'lat': 22.27832, 'lon': 114.17469}}], 'centralContacts': [{'name': 'MEI KWUN KWOK, MB,BS', 'role': 'CONTACT', 'email': 'kwokmk@ha.org.hk', 'phone': '852-57413216'}], 'overallOfficials': [{'name': 'Mei Kwun Kwok', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': "Hong Kong Children's Hospital"}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': "Hong Kong Children's Hospital", 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Associate Consultant', 'investigatorFullName': 'Kwok Mei-kwun', 'investigatorAffiliation': "Hong Kong Children's Hospital"}}}}