[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"gaucher-disease-type-3\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:gaucher-disease-type-3":61},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,41,76],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":26,"conditions":27,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":30,"lastUpdatePostDateStruct":31,"startDateStruct":34,"completionDateStruct":36,"leadSponsor":38,"locationsCount":4},"100639064","phase-1-a-phase-iii-clinical-study-to-evaluate-the-safety-and-efficacy-of-vgn-r08b-in-patients-with-type-iii-gauchers-disease-100639064",false,"NCT07603050","A Phase I\u002FII Clinical Study to Evaluate the Safety and Efficacy of VGN-R08b in Patients With Type III Gaucher's Disease","A Phase I\u002FII Clinical Study to Evaluate the Tolerance, Safety and Efficacy of VGN-R08b Intracerebroventricular Injection in Patients With Type III Gaucher's Disease","Inclusion Criteria:\n\n1. The signing of the informed consent form should be completed when the subject is at least 2 years old but less than 18 years old.\n2. The subject has a documented medical history of Gaucher disease confirmed by GCase enzyme activity testing, and has a double GBA1 gene mutation.\n3. According to the investigator's assessment, the neurological signs and\u002For symptoms are consistent with type III Gaucher disease.\n4. At the time of enrollment, the subject has horizontal eye movement disorders (including gaze paralysis, or delayed or absent saccades), but there is no severe motor dysfunction resulting in bedridden status.\n5. The subject is currently receiving substrate reduction therapy (SRT) and\u002For high-dose ambroxol for Gaucher disease treatment. The subject is required to have been on stable treatment for at least 2 months before enrollment and the investigator determines that the treatment is ineffective for neurological symptoms, or is willing to discontinue the treatment at the time of enrollment (discontinuation 1 week before administration).\n6. The subject is currently receiving and willing to continue stable peripheral treatment (including imiglucerase or other ERT, or SRT), and the peripheral symptoms of Gaucher disease are stable at the time of screening, that is, all of the following conditions are met: hemoglobin level ≥ 11.0 g\u002FdL (female) or ≥ 12.0 g\u002FdL (male), platelet count ≥ 100×109\u002FL, spleen volume \\\u003C 10 times the normal value (MN), liver volume \\\u003C 1.5 MN, and no bone crisis or asymptomatic bone disease (such as bone necrosis and\u002For pathological fractures causing bone pain) within 3 months before screening.\n7. (Applicable) Male and female subjects with reproductive potential must continue to use an effective contraceptive method (including abstinence) correctly from the screening period until at least 1 year after the start of treatment, and not donate sperm or eggs.\n8. The subject (applicable) and their parents\u002Fguardians must understand the trial information, purpose and risks described in the informed consent form, and authorize the use of the subject's health information and provide an informed consent form with the signature and date of signing.\n9. The subject (applicable) and their parents\u002Fguardians are willing to participate in the study as information providers, providing the subject's health status, cognition and physical ability (including providing information for rating scales).\n\nExclusion Criteria:\n\n1. There are other serious neurological disorders that may cause symptoms of Gaucher disease or interfere with the research objectives;\n2. There are severe internal organ damages caused by Gaucher disease, which, after evaluation by the researchers, are considered to pose unacceptable risks to the subjects, or interfere with the subjects' research compliance, or interfere with the execution of the trial;\n3. Long-term ventilation or long-term nasogastric feeding (long-term ventilation is defined as: requiring tracheotomy for respiratory assistance, or continuous 14 days or more of non-invasive respiratory assistance for ≥ 16 hours per day, excluding acute reversible diseases that require assisted ventilation and perioperative ventilation. Long-term nasogastric feeding refers to the use of a nasogastric tube for feeding due to severe loss of swallowing function);\n4. There are severe immunodeficiencies or autoimmune diseases;\n5. There is active infection (including viral infections such as HIV, HBV, HCV or syphilis);\n\n   The following medication and treatment situations exist:\n6. Currently using drugs, herbs, or over-the-counter medications that have strong inhibitory or inducing effects on CYP3A4 or P-gp;\n7. Having received bone marrow or organ transplantation, or any gene or cell therapy;\n8. Having undergone immunization (live vaccines) within 4 weeks;\n9. Undergoing systemic immunosuppressive therapy or corticosteroid therapy other than that required by the protocol (local preparations for skin diseases can be used);","ALL","2 Years","18 Years",{"count":20,"type":21},12,"ESTIMATED","INTERVENTIONAL",[24,25],"PHASE1","PHASE2","A phase I\u002FII clinical study to evaluate the tolerance, safety and efficacy of VGN-R08b intracerebroventricular injection in patients with type III Gaucher's disease",[28],"Gaucher Disease Type 3","NOT_YET_RECRUITING","2026-05-20",{"date":32,"type":33},"2026-05-22","ACTUAL",{"date":35,"type":21},"2026-05-14",{"date":37,"type":21},"2032-08-16",{"name":39,"class":40},"Shanghai Vitalgen BioPharma Co., Ltd.","INDUSTRY",{"id":42,"slug":43,"hasResults":11,"nctId":44,"briefTitle":45,"officialTitle":45,"acronym":46,"eligibilityCriteria":47,"healthyVolunteers":11,"sex":48,"minAge":18,"maxAge":49,"enrollmentInfo":50,"targetDuration":4,"studyType":22,"phases":52,"briefSummary":53,"conditions":54,"keywords":4,"overallStatus":64,"whyStopped":4,"lastUpdateSubmitDate":65,"lastUpdatePostDateStruct":66,"startDateStruct":68,"completionDateStruct":70,"leadSponsor":72,"locationsCount":75},"100403342","phase-1-pearl-prenatal-enzyme-replacement-therapy-for-lysosomal-storage-disorders-100403342","NCT04532047","PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)","PEARL","Inclusion Criteria:\n\n* Live male or female fetuses at 18 0\u002F7 weeks to 34 6\u002F7 weeks gestation\n* Diagnosis of one of the 8 included LSDs in utero by genetic or enzymatic analyses performed on amniotic fluid, fetal blood, placental tissue, or other samples through chorionic villus sampling (CVS), amniocentesis, cordocentesis, cell free fetal DNA, or other procedures. In the event that parents are identified as genetic carriers for a LSD, diagnostic testing for the fetus would be performed to confirm the diagnosis\n* Pregnant women age 18 years to 50 years, carrying a live male or female fetus at 18 0\u002F7 weeks to 34 6\u002F7 weeks gestation\n* Identified through the above listed means to be carrying a fetus with an LSD.\n* Ability to give written informed consent and comply with the requirements of the study.\n\nExclusion Criteria:\n\n* Fetuses with a concurrent severe structural anomaly\n* Fetuses with an additional pathogenic genetic variant not related to the underlying LSD that contribute a significant risk of morbidity or mortality.\n\nHydrops fetalis will not be an exclusion criterion because ERT has the possibility of significant benefit in this situation.\n\n* Women with one or more significant comorbidities that would preclude fetal intervention including, but not limited to:\n\n  1. inability to complete the procedure secondary to maternal body habitus or placental location\n  2. significant cardiopulmonary disease\n  3. mirror syndrome\n  4. end organ failure\n  5. altered mental status\n  6. placental abruption\n  7. active preterm labor\n  8. preterm premature rupture of membranes.\n* Mother will require therapeutic dosing of anticoagulation within 24 hours prior to or following the intervention.","FEMALE","50 Years",{"count":51,"type":21},10,[24],"For detailed information, please view our study website: https:\u002F\u002Fpearltrial.ucsf.edu\u002F\n\nThe investigators aims to determine the the maternal and fetal safety and feasibility of in utero fetal enzyme replacement therapy in fetuses with Lysosomal Storage Diseases.",[55,56,57,58,59,60,61,62,63],"MPS I","MPS II","MPS IVA","MPS VI","Mps VII","Gaucher Disease, Type 2","Gaucher Disease, Type 3","Pompe Disease Infantile-Onset","Wolman Disease","RECRUITING","2026-03-14",{"date":67,"type":33},"2026-03-17",{"date":69,"type":33},"2021-07-01",{"date":71,"type":21},"2032-07-31",{"name":73,"class":74},"University of California, San Francisco","OTHER",1,{"id":77,"slug":78,"hasResults":11,"nctId":79,"briefTitle":80,"officialTitle":80,"acronym":4,"eligibilityCriteria":81,"healthyVolunteers":11,"sex":16,"minAge":18,"maxAge":82,"enrollmentInfo":83,"targetDuration":4,"studyType":85,"phases":4,"briefSummary":86,"conditions":87,"keywords":4,"overallStatus":64,"whyStopped":4,"lastUpdateSubmitDate":88,"lastUpdatePostDateStruct":89,"startDateStruct":91,"completionDateStruct":93,"leadSponsor":95,"locationsCount":75},"100484300","magnetic-resonance-spectroscopy-biomarkers-in-type-3-gaucher-disease-gd3-100484300","NCT05586243","MAGNETIC RESONANCE SPECTROSCOPY BIOMARKERS IN TYPE 3 GAUCHER DISEASE (GD3)","Inclusion Criteria:\n\n* All participants must be 18 years or older.\n* All enrollees must understand and cooperate with requirements of the study in the opinion of the investigators and must be able to provide written informed consent.\n* Individuals with GD3 who are medically stable for participation in study in the opinion of the investigator.\n\nExclusion Criteria:\n\n* Medically unstable conditions as determined by the investigators.\n* Concurrent disease; medical condition; or an extenuating circumstance that, in the opinion of the investigator, might compromise subject safety, study compliance, completion of the study, or the integrity of the data collected for the study.\n* Women who are pregnant or lactating or of child-bearing age that are not using acceptable forms of contraception.\n* Patients enrolled in another interventional study.\n* Patients who cannot or are unwilling to have blood drawn.\n* Inability to undergo Magnetic Resonance Imaging (MRI) scanning, including but not limited to unable to remain still in an MRI scanner for more than 30 minutes, claustrophobia, presence of paramagnetic substances or pacemakers in body, weight over 300 lbs.\n* Unable to adhere to study protocol for whatever reason.","80 Years",{"count":84,"type":21},5,"OBSERVATIONAL","Recent studies have has shown that magnetic resonance spectroscopy (MRS) can provide validated neuronal markers in patients with Type 1 GD (GD1) who are on stable therapy. However, alterations in neurometabolites in adult patients with GD3, who have established neurological involvement, are not well understood. The goal of this study is to characterize neurometabolite profiles in adult patients with GD3 using MRS to identify novel biomarkers that can demonstrate treatment response. Additionally, a secondary aim is to evaluate relationships between neurometabolites and disease parameters, such as genotype, enzyme levels and Gaucher disease (GD) biomarkers.",[61],"2026-01-05",{"date":90,"type":33},"2026-01-08",{"date":92,"type":33},"2023-01-01",{"date":94,"type":21},"2026-07-31",{"name":96,"class":74},"University of Minnesota"]