[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"gba-gene-mutation\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:gba-gene-mutation":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,42,66],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":17,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":27,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":31,"lastUpdatePostDateStruct":32,"startDateStruct":35,"completionDateStruct":37,"leadSponsor":39,"locationsCount":5},"100392359","world-data-on-ambroxol-for-patients-with-gd-and-gba-related-pd-100392359",false,"NCT04388969","World Data on Ambroxol for Patients With GD and GBA Related PD","IIR REGISTRY for the Collection of Real World Data on the Safety and Efficacy of Ambroxol for Patients With Gaucher Disease or GBA Carriers With Parkinson Disease","Inclusion Criteria:\n\n* patients with Gaucher disease type 1,2 or 3(a,b,c).\n* patients with GBA-related Parkinson disease.\n\nExclusion Criteria:\n\n* None.","ALL","100 Years",{"count":19,"type":20},300,"ESTIMATED","OBSERVATIONAL","Ambroxol hydrochloride is an oral mucolytic drug available over-the-counter for many years as cough medicine. In 2009 it was found to also act as a pharmacological chaperone (PC) for mutant glucocerebrosidase, albeit in a several-fold higher dose. Unfortunately, due to its low cost, there have been no pharma-driven clinical trials to establish the use of ambroxol. Thus, data are needed on the safety and efficacy of ambroxol for patients with Gaucher disease (GD).",[24,25,26],"Gaucher Disease","Parkinson Disease","GBA Gene Mutation",[28,24,29],"Ambroxol","GBA carriers with Parkinson disease","RECRUITING","2026-04-23",{"date":33,"type":34},"2026-04-29","ACTUAL",{"date":36,"type":34},"2020-05-06",{"date":38,"type":20},"2030-11-30",{"name":40,"class":41},"Shaare Zedek Medical Center","OTHER",{"id":43,"slug":44,"hasResults":11,"nctId":45,"briefTitle":46,"officialTitle":47,"acronym":4,"eligibilityCriteria":48,"healthyVolunteers":11,"sex":16,"minAge":49,"maxAge":50,"enrollmentInfo":51,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":53,"conditions":54,"keywords":55,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":57,"lastUpdatePostDateStruct":58,"startDateStruct":60,"completionDateStruct":62,"leadSponsor":64,"locationsCount":5},"100370332","the-gba-multimodal-study-in-parkinsons-disease-100370332","NCT04101968","The GBA Multimodal Study in Parkinson's Disease","Multimodal Molecular Imaging and Biometric Analysis in GBA-PD and Asymptomatic GBA-mutation Carriers","Inclusion Criteria:\n\n* heterozygous for a pathogenic GBA mutation (e.g., p.L444P, p.N370S) or polymorphism;\n* age 18 to 80 years.\n\nExclusion Criteria:\n\n* co-occurrence of other neurological disorders;\n* implants that contraindicate the MRI scanning (e.g. cardiac pacemaker, ferromagnetic implants or devices);\n* severe claustrophobia;\n* intolerance to antiparkinsonian drug withdrawal (for GBA-PD subjects);\n* ongoing treatment with cholinergic drugs","18 Years","80 Years",{"count":52,"type":20},25,"This study plans to analyze the molecular and clinical mechanisms of the relationship between the GBA mutations and Parkinson's disease. This will be assessed through the use of advanced neuroimaging techniques called PET (positron emission tomography) to study the accumulation of the tau protein and the dysfunction of acetylcholine and dopamine in the brain of people with a mutation in the GBA gene, with and without Parkinson's disease. The ingestigators will also use a technology-based assessment to study the typing patterns as possible biomarkers of early motor dysfunctions.",[25,26,24],[56],"Parkinson","2025-05-27",{"date":59,"type":34},"2025-05-31",{"date":61,"type":34},"2019-05-01",{"date":63,"type":20},"2025-12-30",{"name":65,"class":41},"Pacific Parkinson's Research Centre",{"id":67,"slug":68,"hasResults":11,"nctId":69,"briefTitle":70,"officialTitle":70,"acronym":4,"eligibilityCriteria":71,"healthyVolunteers":72,"sex":16,"minAge":49,"maxAge":4,"enrollmentInfo":73,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":75,"conditions":76,"keywords":78,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":79,"lastUpdatePostDateStruct":80,"startDateStruct":82,"completionDateStruct":84,"leadSponsor":86,"locationsCount":88},"100480469","drug-discovery-for-parkinsons-with-mutations-in-the-gba-gene-100480469","NCT05536388","Drug Discovery for Parkinson's With Mutations in the GBA Gene","Inclusion Criteria:\n\n* Age 18 years or older.\n* Diagnosis of Parkinson's disease, Gaucher disease, or healthy control.\n* Must provide written informed consent unless physical limitations preclude signing.\n\nExclusion Criteria:\n\n* For skin samples collected specifically for this study: history of keloid formation, coagulation disorder, allergy to the anesthetic, or anticoagulation use that precludes sample collection.\n* For blood samples collected specifically for this study: coagulation disorder or other medical condition(s) that increases the risks associated with blood collection.\n* For all prospective sample collections: Subjects who refuse to adhere to NYSCF's and\u002For a collection site's safety protocols will be excluded. Subjects with an AIDS diagnosis and CD4 count of less than 200 cells per microliter (mcL) of blood will be excluded due to increased risk of infection.",true,{"count":74,"type":20},60,"The New York Stem Cell Foundation (NYSCF) Research Institute is performing this research to accelerate Parkinson's disease research and drug development by using cells from the body (such as skin or blood cells) to make stem cells and other types of cells, conduct research on the samples, perform genetic testing, and\u002For store the samples for future use.\n\nThrough this research, researchers hope to identify future treatments or even cures for Parkinson's disease.",[25,24,77,26],"Healthy",[25,26],"2025-02-27",{"date":81,"type":34},"2025-03-03",{"date":83,"type":34},"2022-07-15",{"date":85,"type":20},"2025-07-15",{"name":87,"class":41},"New York Stem Cell Foundation Research Institute",1]