36 Clinical Trials for Various Conditions
This is a multicenter, randomized trial to compare the safety and efficacy of two dosing frequencies of Cerezyme® in patients with Gaucher disease who are currently being treated with Cerezyme®. Approximately 90 patients will be randomized in a 2:1 (q4 : q2) ratio to one of two treatment arms at up to 26 study centers worldwide. Patients will continue to receive the same total 4-week dose that they were receiving prior to study enrollment, however, they will be randomized to receive either their total 4-week dose in two infusions, one infusion every 2 weeks or their total 4-week dose in one infusion every 4 weeks. The randomization scheme will ensure a 2:1 balance between the every 4-week versus every 2-week infusion groups, respectively.
Gaucher disease is a genetic disease that results in a deficiency of an enzyme acid beta-glucosidase, also known as glucocerebrosidase. This enzyme is needed to digest a substrate (lipid) called glucosylceramide and, to a lesser degree, glucosylsphingosine. In participants with Gaucher disease, the liver, spleen, bone marrow and brain show increases in lipid concentration, specifically in cells derived from the monocyte/macrophage system. Eliglustat tartrate (Genz-112638) is an oral drug that may regulate the Gaucher disease process by decreasing the synthesis of glucosylceramide. The primary objective of this study is to evaluate the efficacy, safety and pharmacokinetics (PK) of eliglustat tartrate, administered as an oral dose of either 50 milligram (mg) twice daily (BID) or 100 mg BID, to men and women with Gaucher disease Type 1 for 52 weeks.
This 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.
This is a multicenter, long-term, follow-up trial of participants with Gaucher disease type 1 who received FLT201 treatment in a preceding clinical trial. Participants will be followed for 5 years post-treatment.
Bone-related problems represent the principal unmet medical need in Gaucher disease (GD). 75% of GD type 1 patients develop skeletal complications, including bone remodeling defects, osteopenia, osteoporosis, marrow infiltration, avascular necrosis, and osteolysis. However, the underlying cellular/molecular basis of bone involvement and related complications in GD are not fully known. Neither are there any bone-specific markers associated with individual bone pathology. Early diagnosis of bone disease is the key issue for planning individual therapy to prevent and reverse bone disease in GD.
Part 1: Biomarker evaluation/screening phase Primary Objectives: * Evaluate cerebrospinal fluid (CSF) biomarkers in adult Gaucher disease Type 3 (GD3) participants that distinguish GD3 from adult Gaucher disease Type 1 (GD1) participants * Screen adult GD3 participants who qualify for treatment with venglustat in Parts 2, Part 3, and Part 4 Parts 2 and 3: Combination treatment phases Primary objectives: * Evaluate short-term (Part 2) and long-term (Part 3) safety and tolerability of venglustat in combination with Cerezyme in adult GD3 participants * Evaluate the change in CSF central nervous system (CNS) biomarkers (glucosylceramide \[GL-1\] and lyso-glucosylceramide \[lyso-GL-1\]) from adult GD3 participants receiving venglustat in combination with Cerezyme (Part 2 only) Part 4: Extended treatment phase with monotherapy Primary objectives: • Evaluate safety and tolerability of venglustat monotherapy in adult GD3 participants who have remained systemically stable on venglustat in combination with Cerezyme Parts 2 and 3: Combination treatment phases Secondary Objectives: * Evaluate the pharmacokinetics (PK) of venglustat in adult GD3 participants * Evaluate the efficacy of venglustat in combination with Cerezyme in systemic disease in adult GD3 participants by assessing spleen volume, liver volume, hemoglobin level and platelet count * Evaluate the efficacy of venglustat in combination with Cerezyme on neurological function in adult GD3 participants by assessing Ataxia using the Scale for the Assessment and Rating of Ataxia (SARA) * Evaluate plasma biomarkers (lyso-GL-1 and GL-1) in adult GD3 participants Part 4: Extended treatment phase with monotherapy Secondary objectives: * Evaluate the efficacy of venglustat in systemic disease in adult GD3 participants by assessing spleen volume, liver volume, hemoglobin level and platelet count * Evaluate the efficacy of venglustat on neurological function in adult GD3 participants by assessing Ataxia using the Scale for the Assessment and Rating of Ataxia (SARA) * Evaluate plasma biomarkers (lyso-GL-1 and GL-1) in adult GD3 participants
The 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.
The purpose of this trial is to study the effect of Velaglucerase Alfa on skeletal bone development of children with Type 1 or Type 3 Gaucher Disease. In addition, the natural history and neurological status of children with Type 3 Gaucher Disease will be studied.
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to the deficiency of functional GCB, glucocerebroside accumulates within macrophages leading to cellular engorgement, organomegaly, and organ system dysfunction. The purpose of this treatment protocol is to observe the safety of velaglucerase alfa in patients with type 1 Gaucher disease who are either treatment naive (newly diagnosed) or who are currently being treated with the Enzyme Replacement Therapy (ERT) imiglucerase.
This Phase 3 study was designed to confirm the efficacy and safety of eliglustat tartrate (Genz-112638) in participants with Gaucher disease type 1 who had reached therapeutic goals with enzyme replacement therapy (ERT).
This Phase 3 study was designed to confirm the efficacy and safety of eliglustat tartrate (Genz-112638) in participants with Gaucher disease Type 1.
A screening study to identify and characterize the disease status of patients with Gaucher Type 1 disease for potential inclusion in a subsequent phase 3 clinical study.
The purpose of this study is to evaluate the long-term safety of every other week dosing of Gene-Activated® human glucocerebrosidase (GA-GCB, velaglucerase alfa) intravenously in patients with type 1 Gaucher disease.
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to the deficiency of functional GCB, glucocerebroside accumulates within macrophages leading to cellular engorgement, organomegaly, and organ system dysfunction. The purpose of this non-inferiority study is to evaluate the efficacy and safety of GA-GCB (velaglucerase alfa) administered every other week in comparison to imiglucerase in treatment naive patients with type 1 Gaucher disease.
This study was conducted to test the safety and tolerability of afegostat tartrate in participants with type 1 Gaucher disease already receiving enzyme replacement therapy.
Although miglustat has been approved as a treatment for mild to moderate type 1 Gaucher disease in patients who are unsuitable for enzyme replacement therapy (ERT), more data are required to establish the long term efficacy, safety and tolerability of miglustat in maintaining diseases stability after a switch from ERT.
Study 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.
This study evaluated the long-term safety and efficacy of afegostat tartrate in participants with Gaucher disease who were enrolled in a previous Phase 2 study of afegostat tartrate.
This study evaluated the safety and tolerability of afegostat tartrate in participants with type 1 Gaucher disease who were not receiving enzyme replacement therapy (ERT) or substrate reduction therapy (SRT).
The purpose of this study is to learn more about Gaucher disease. The information we collect from medical histories and a blood sample from people with Gaucher disease may help us pinpoint certain things that are different between people who have Gaucher disease and people who do not have Gaucher disease. This information may be useful in the future to help find new treatments for Gaucher disease.
The study will provide information on outcomes in people with type 1 Gaucher disease when they are treated with velaglucarase alfa (also called VPRIV), under standard care. Standard care means the participant will be treated according to the clinic's standard practice. The study sponsor will not be involved in how participants are treated with VPRIV, will provide instructions on how the clinic will record what happens during the study. VPRIV is a type of enzyme replacement therapy (also known as ERT). Before starting the study, participants must either have switched from substrate reduction therapies (SRT) to VPRIV or switched from other enzyme replacement therapies to SRT then finally to VPRIV. During this time, medical data will be collected from the participants' medical records. During the study, participants will be treated with VPRIV according to their clinic's standard practice. VPRIV is given by a slow injection into the vein, also known as an infusion. This will happen in the clinic or at home. The study will record if blood levels of specific substances remain stable or improve during the switch to treatment with VPRIV. Some of these substances will show if organs such as the liver or spleen are working well. Others are blood cells that help blood to clot, known as platelets. Another is a substance in a red blood cell used to carry oxygen around the body, known as hemoglobin. Participants will use a digital tool so they can be more involved in decision making in their treatment. The digital tool is a mobile phone app, in which each participant can log their daily activities, their general health and wellbeing, and other key information. Medical data will also be collected from the participants' charts during this time. Health problems of the participants will be recorded during the study to check if there were any side effects from VPRIV treatment. Participants will be in this study for up to 12 months.
This was a multinational, open-label study to assess the safety and efficacy of AVR-RD-02 in approximately 8 to 16 subjects (male or female) who are ≥18 and ≤50 years of age and post pubertal at Screening with a confirmed diagnosis of Type 1 Gaucher disease (based on clinical phenotype, genotyping, and deficient GCase enzyme activity in whole blood).
In August of 2014, the FDA approved ELELYSO for long-term enzyme replacement therapy (ERT) for pediatric subjects with a confirmed diagnosis of Type 1 Gaucher disease. The recommended dosage for treatment-naïve adult and pediatric subjects 4 years of age and older is 60 units per kg of body weight administered every other week as a 60 to 120 minute intravenous infusion. As a postmarketing commitment, the Sponsor agreed to evaluate the pharmacokinetics (PK), pharmacodynamics (PD), and safety of Elelyso (taliglucerase alfa) in pediatric subjects with Type 1 Gaucher Disease. in at least 5 subjects with body weight less than 15 kg; at least 5 subjects with body weight 15 to less than 20 kg; and at least 5 subjects with body weight of 20-25 kg with Type 1 Gaucher disease dosed at 60 units/kg every other week. When applicable, PD measurements for children enrolled in the PK study may be obtained through the taliglucerase alfa registry (PMR 1895-5) and will include organ volumes (spleen and liver), hematological values (hemoglobin and platelets) as well as growth (height and weight) data. Safety data, including any serious hypersensitivity reactions, such as anaphylaxis, as well as changes in antibody status (ie, detection and titers of binding and neutralizing antibodies, and detection of IgE antibodies), will also be collected through the taliglucerase alfa registry.
The primary purpose of this study is to evaluate the effect of VPRIV therapy (60 units per kilogram \[U/kg\] every other week \[EOW\]) in treatment-naive participants with type 1 Gaucher disease on change from baseline in lumbar spine (LS) bone mineral density (BMD) Z-score as measured by dual energy x-ray absorptiometry (DXA) after 24 months of treatment.
With the participation of an international consortium of investigators, the investigators will evaluate the validity of a new severity score system called DS3 for adult patients with Gaucher disease. The investigators hypothesize that initial DS3 scores will be predictive of both disease progression and patterns of response including imiglucerase dose sensitivity and completeness and maintenance of response and that sequential DS3 scores will accurately portray either clinical progression of disease or improvement in response to treatment. The investigators will also collect DNA specimens that in future research will be used in conjunction with the DS3 scores to evaluate determinants of the clinical course and the response to treatments for Gaucher disease.
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to the deficiency of functional GCB, glucocerebroside accumulates within macrophages leading to cellular engorgement, organomegaly, and organ system dysfunction. The purpose of this study is to evaluate the safety and efficacy of every other week dosing of GA-GCB (velaglucerase alfa) in participants with type 1 Gaucher disease who were previously treated with imiglucerase.
OBJECTIVES: I. Transfer the human glucocerebrosidase (GC) gene into peripheral blood stem cells (PBSC) obtained from patients with type I Gaucher disease using a retroviral vector. II. Transplant the autologous transduced PBSC in these patients. III. Measure the carriage and expression of the transferred gene and its duration in peripheral blood leukocytes. IV. Assess the clinical effects of transplanting genetically corrected PBSC.
This is a multicenter, multinational long-term follow-up study to assess the long-term safety and durability of effect of AVR-RD-02 treatment in subjects who previously received AVR-RD-02 treatment (single dose administration).
This is an open-label study designed to assess if AT2101 is safe in patients with Gaucher disease and how AT2101 gets through the body after it is taken by mouth. The study is being offered to adult patients with type 1 Gaucher disease who are currently receiving a stable dose of enzyme replacement therapy (ERT) with imiglucerase. During the study, subjects will not be receiving ERT (up to 35 days). The study consists of a screening period (\~14 days), a treatment period (12 days) and a follow-up period (7 days after last dose). At two points in the study, subjects will be housed in an in-patient treatment facility for 3 days/2 nights to accommodate all necessary blood draws.
The primary objective of this study was to evaluate the efficacy and safety of once daily (QD) versus twice daily (BID) dosing of eliglustat tartrate (Genz-112638) in participants with Gaucher disease type 1 who had demonstrated clinical stability on BID dosing of eliglustat tartrate (Genz-112638). The secondary objective was to evaluate the pharmacokinetics (PK) of Genz-99067 when eliglustat tartrate (Genz-112638) was administered QD and BID in participants with Gaucher disease type 1 who had demonstrated clinical stability on BID dosing of eliglustat tartrate (Genz-112638).