In Utero Enzyme Replacement Therapy for Lysosomal Storage Diseases
MPS IMPS II9 moreThe 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.
Phase 1/2 Clinical Trial of PR001 in Infants With Type 2 Gaucher Disease (PROVIDE)
Gaucher DiseaseType 2J3Z-MC-OJAB is an open-label, Phase 1/2, multicenter study to evaluate the safety and efficacy of single-dose LY3884961 (formerly PR001) in infants diagnosed with Type 2 Gaucher disease (GD2). For each patient, the study will be approximately 5 years in duration. During the first 12 months after dosing, patients will be evaluated for the effects of LY3884961 on safety, tolerability, immunogenicity, biomarkers, and efficacy. Patients will be followed up for an additional 4 years to monitor safety and changes on selected biomarkers and clinical outcomes.
A Clinical Trial of PR001 (LY3884961) in Patients With Peripheral Manifestations of Gaucher Disease...
Gaucher DiseaseGaucher Disease1 moreStudy J3Z-MC-OJAE is a Phase 1/2, multicenter, open-label, dose-finding study of LY3884961 evaluating the safety and tolerability in adults with peripheral manifestations of GD. Up to 3 dose levels of LY3884961 will be assessed in 3 dose-finding cohorts of 3 patients. Following this, up to 6 patients may be enrolled into an expansion cohort. For each enrolled patient, the study will be approximately 5 years in duration, including up to a 45-day screening period. During the first 18 months after dosing, subjects will be evaluated for the effects of LY3884961 on safety, tolerability, immunogenicity, biomarkers, and efficacy. Patients will be followed up for an additional 42 months to monitor safety, immunogenicity, and selected biomarker and efficacy parameters.
Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher...
Gaucher's Disease Type IIIThis is a parallel arm, Phase 3, double-blind, double-dummy, active-comparator, 2 arm study to evaluate the efficacy and safety of daily oral venglustat versus intravenous Cerezyme infusions every two weeks for improvement or stabilization of the neurological manifestations and maintenance of systemic disease stability in participants aged ≥12 and <18 years and adult patients with Gaucher disease Type 3 (GD3) who have been treated with Enzyme Replacement Therapy (ERT) for at least 3 years.
A Study of Velaglucerase Alfa (VPRIV) in Chinese Children, Teenagers, and Adults With Type 1 Gaucher...
Gaucher DiseaseThe main purpose of this study is to observe the side effects of VPRIV in participants with type 1 Gaucher disease who are either treatment-naïve (newly diagnosed) or who are currently being treated with enzyme replacement therapy (ERT). Participants will receive VPRIV intravenously during the treatment period (up to 51 weeks), followed by the end-of-treatment (EOT) visit after 2 weeks.
Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1)
Gaucher Disease Type 1The purpose of this study is to measure levels of blood and brain chemicals related to oxidative stress and inflammation in healthy volunteers and individuals with Type 1 Gaucher disease (GD1) to see if these levels are altered by GD1.
A Gene Therapy Study in Patients With Gaucher Disease Type 1
Gaucher DiseaseType 1This study is a first-in-human, open-label, safety, tolerability, and efficacy study in adult patients with Gaucher disease Type 1. The aims are to investigate the safety/tolerability and efficacy of FLT201, and to investigate the relationship of FLT201 dose to augmentation of residual glucocerebrosidase (GCase) expression (activity and concentration), and its potential to improve the clinical phenotype by reduction and prevention of cellular accumulation of GCase substrate.
Phase 1/2 Study of CAN103 in Subjects With Gaucher Disease
Gaucher DiseaseType 12 moreGaucher disease is a rare lysosomal storage disorder caused by deficient activity of the enzyme acid β-glucosidase, causing glucosylceramide to accumulate within macrophages and leading to hepatosplenomegaly, anemia, thrombocytopenia, and bone disease. In the non-neuronpathic form (type 1), disease manifestations are mostly systemic, whereas in the neuronopathic forms, glucosylceramide also accumulates in the central nervous sysem and leads to acute (type 2) or chronic (type 3) neurodegeneration. The purpose of this Phase 1/2 first-in-human study is to initially evaluate the safety and tolerability of two doses of CAN103, and then barring any safety concerns, to evaluate the efficacy and safety of the two doses administered intravenously every other week in treatment-naive subjects with Gaucher disease type 1 or type 3.
Safety and Efficacy of Eliglustat With or Without Imiglucerase in Pediatric Patients With Gaucher...
Gaucher's Disease Type IGaucher's Disease Type IIIPrimary Objective: Evaluate the safety and pharmacokinetics of eliglustat in pediatric patients (≥2 to <18 years old). Secondary Objective: Evaluate the efficacy of eliglustat and quality of life in pediatric patients (≥2 to <18 years old).
Study to Evaluate Efficacy and Safety of Imiglucerase Treatment in Chinese Patients With Gaucher...
Gaucher's DiseasePrimary Objective To evaluate the efficacy on hematologic manifestations of imiglucerase treatment in Chinese patients who are diagnosed as Gaucher disease type Ⅲ To evaluate the safety profile of imiglucerase in maximum dose in the label (60U/kg, IV biweekly) in Chinese patients. Secondary Objective To evaluate the efficacy on viscera manifestations of imiglucerase treatment in Chinese patients who are diagnosed as Gaucher disease type Ⅲ To evaluate the efficacy on bone disease of imiglucerase treatment in Chinese patients who are diagnosed as Gaucher disease type Ⅲ To evaluate the effect on quality of life of imiglucerase treatment in Chinese patients who are diagnosed as Gaucher disease type Ⅲ