Ignite Creation Date:
2025-12-24 @ 11:03 PM
Ignite Modification Date:
2025-12-25 @ 8:34 PM
Study NCT ID:
NCT07285369
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2025-12-16
First Post:
2025-11-21
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
High-Dose Ambroxol in Pediatric Type III Gaucher Disease (GD3)
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D005776', 'term': 'Gaucher Disease'}, {'id': 'D001259', 'term': 'Ataxia'}, {'id': 'D009207', 'term': 'Myoclonus'}, {'id': 'D009461', 'term': 'Neurologic Manifestations'}, {'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}], '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': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008064', 'term': 'Lipidoses'}, {'id': 'D008052', 'term': 'Lipid Metabolism, Inborn Errors'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D052439', 'term': 'Lipid Metabolism Disorders'}, {'id': 'D020820', 'term': 'Dyskinesias'}, {'id': 'D012816', 'term': 'Signs and Symptoms'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D000551', 'term': 'Ambroxol'}], 'ancestors': [{'id': 'D001964', 'term': 'Bromhexine'}, {'id': 'D000814', 'term': 'Aniline Compounds'}, {'id': 'D000588', 'term': 'Amines'}, {'id': 'D009930', 'term': 'Organic Chemicals'}, {'id': 'D003514', 'term': 'Cyclohexylamines'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NA', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'TREATMENT', 'interventionModel': 'SINGLE_GROUP'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 12}}, 'statusModule': {'overallStatus': 'ACTIVE_NOT_RECRUITING', 'startDateStruct': {'date': '2025-03-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-11', 'completionDateStruct': {'date': '2027-01-01', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-12-02', 'studyFirstSubmitDate': '2025-11-21', 'studyFirstSubmitQcDate': '2025-12-02', 'lastUpdatePostDateStruct': {'date': '2025-12-16', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2025-12-16', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2026-10-01', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Safety and Tolerability of High-Dose Ambroxol', 'timeFrame': '6 months (with optional assessment at 12-month extension)', 'description': 'Incidence and Severity of Treatment-Emergent Adverse Events'}], 'secondaryOutcomes': [{'measure': 'Assess the efficacy of high-dose (mean 35mg/kg bodyweight) Ambroxol by at least 20% improvement in at least 50% of the patients measured with: assessment and Rating of Ataxia (SARA) scale for patients with ataxia.', 'timeFrame': '6 months (with optional assessment at 12-month extension)', 'description': '50% of Participants Achieving ≥20% Improvement in SARA Score'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Type III Gaucher Disease', 'Gaucher Disease', 'GD3', 'Ambroxol', 'Pharmacologic chaperone', 'Ataxia', 'Myoclonus', 'Neurological manifestations', 'Lysosomal storage disorder'], 'conditions': ['Gaucher Disease, Type 3']}, 'descriptionModule': {'briefSummary': "Type: Prospective, open-label, single center study\n\nDuration: 6 months with an optional 12-month extension phase\n\nParticipants: 12 pediatric patients diagnosed with type III Gaucher disease (GD3) aged ≥3 to ≤18 years old treatment naïve or on enzyme replacement therapy (ERT). They will be treated with high-dose Ambroxol (mean 35mg/kg bodyweight).\n\nLocation: The Children's Hospital, Lahore, Pakistan.", 'detailedDescription': "This single-center, prospective, open-label study investigates the safety, tolerability, and efficacy of high-dose Ambroxol in pediatric patients with genetically confirmed Type III Gaucher Disease (GD3). The study will enroll 12 participants aged 3 to 18 years, either treatment naïve or receiving enzyme replacement therapy (ERT). Participants will receive high-dose Ambroxol orally (mean 35 mg/kg bodyweight) over a 6-month period, with an optional 12-month extension.\n\nPrimary Objective:\n\nEvaluate the safety and tolerability of high-dose Ambroxol administered with or without ERT.\n\nSecondary Objective:\n\nAssess efficacy based on at least a 20% improvement in at least 50% of participants using the following measures:\n\n* Assessment and Rating of Ataxia (SARA) for patients with ataxia\n* Unified Myoclonus Rating Scale (UMRS) for patients with myoclonic epilepsy\n* Lyso-Gb1 levels in peripheral blood after at least 6 months of treatment\n\nIntervention:\n\nHigh-dose Ambroxol administered orally (mean 35 mg/kg bodyweight)\n\nStudy Location:\n\nThe Children's Hospital, Lahore, Pakistan\n\nThis study aims to provide preliminary safety and efficacy data on Ambroxol as a therapeutic option for pediatric patients with GD3, potentially informing future larger-scale clinical trials."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '18 Years', 'minimumAge': '3 Years', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Pediatric patients aged 3 to 18 years\n* Genetically confirmed Type III Gaucher Disease (GD3)\n* Treatment naïve or receiving enzyme replacement therapy (ERT)\n* SARA score ≥ 8\n* Sexually active females must agree to use contraception\n* All participants must not be pregnant or breastfeeding\n\nExclusion Criteria:\n\n* Life-threatening visceral disease (related or unrelated to Gaucher Disease)\n* Blood transfusion dependency\n* Clinically significant cardiovascular, gastrointestinal, pulmonary, neurologic, endocrine, or psychiatric conditions\n* Serious swallowing difficulties\n* Renal insufficiency (eGFR \\< 30 mL/min/1.73 m²)\n* Recent chaperone therapy or investigational treatment within the last 6 months\n* Pregnancy or lactation\n* History of cancer, drug or alcohol abuse, major organ transplant, or inability to adhere to study requirements'}, 'identificationModule': {'nctId': 'NCT07285369', 'briefTitle': 'High-Dose Ambroxol in Pediatric Type III Gaucher Disease (GD3)', 'organization': {'class': 'INDUSTRY', 'fullName': 'Agyany Pharma LTD'}, 'officialTitle': 'Ambroxol in Type III Gaucher Disease (GD3): A Prospective 6-Month Single-Center Open-Label Study With an Optional 12-month Extension Phase', 'orgStudyIdInfo': {'id': 'AGP3'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'High-Dose Ambroxol', 'description': 'All participants will receive high-dose Ambroxol orally at a mean dose of 35 mg/kg bodyweight daily for 6 months, with an optional 12-month extension. The drug may be administered with or without enzyme replacement therapy (ERT).', 'interventionNames': ['Drug: Ambroxol']}], 'interventions': [{'name': 'Ambroxol', 'type': 'DRUG', 'description': 'High-dose Ambroxol will be administered orally at a mean dose of 35 mg/kg bodyweight daily. Participants will receive treatment for 6 months, with an optional 12-month extension. The drug may be given with or without concurrent enzyme replacement therapy (ERT).', 'armGroupLabels': ['High-Dose Ambroxol']}]}, 'contactsLocationsModule': {'locations': [{'city': 'Lahore', 'country': 'Pakistan', 'facility': "The Children's Hospital", 'geoPoint': {'lat': 31.558, 'lon': 74.35071}}], 'overallOfficials': [{'name': 'Huma Arshad Cheema, Prof.', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': "The Children's Hospital, Lahore, Pakistan"}]}, 'ipdSharingStatementModule': {'ipdSharing': 'UNDECIDED'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Agyany Pharma LTD', 'class': 'INDUSTRY'}, 'responsibleParty': {'type': 'SPONSOR'}}}}