89 Clinical Trials for Various Conditions
This is a multicenter, open-label, prospective study of the efficacy of Cerezyme in treating patients with skeletal manifestations secondary to Type I Gaucher disease. The study objective is to evaluate and quantify skeletal responses as compared to baseline in Type I gaucher disease patients receiving Cerezyme therapy for 48 months. Additional objectives were to assess the usefulness of various skeletal parameters, such as bone pain, bone crises, bone mineral density, and serum and urine bone markers, as indicative of treatment response and may be useful in dose management.
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.
The ICGG Gaucher Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Gaucher disease, irrespective of treatment status. No experimental intervention is involved; patients in the Registry undergo clinical assessments and receive care as determined by the patient's treating physician. The objectives of the Registry are: * To enhance understanding of the variability, progression, identification, and natural history of Gaucher disease, with the ultimate goal of better guiding and assessing therapeutic intervention. * To assist the Gaucher medical community with the development of recommendations for monitoring patients, and to provide reports on patient outcomes, to optimize patient care. * To characterize the Gaucher disease population. * To evaluate the long-term effectiveness of imiglucerase and of eliglustat. Gaucher Pregnancy Sub-registry: The primary objective of this Sub-registry is to track pregnancy outcomes, including complications and infant growth, in all women with Gaucher disease during pregnancy, regardless of whether they receive disease-specific therapy. No experimental intervention is given; thus a patient will undergo clinical assessments and receive standard of care treatment as determined by the patient's physician.If a patient consents to this Sub-registry, information about the patient's medical and obstetric history, pregnancy, and birth will be collected, and, if a patient consents to data collection for her infant, data on infant growth through month 36 postpartum will be collected.
J3Z-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.
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).
This is an open-label expanded access trial of prGCD in patients with Gaucher disease who require enzyme replacement therapy (ERT) and who have been treated with imiglucerase but for whom the dose has been reduced or discontinued due to shortage of the product.
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.
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.
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.
This study will use an experimental method of delivering the enzyme glucocerebrosidase directly into the brain of a patient with Gaucher disease to treat disease symptoms. Patients with Gaucher disease have insufficient levels of glucocerebrosidase. As a result, substances normally broken down by this enzyme accumulate in the body, causing damage to the brain and other organs. Symptoms of Gaucher disease outside the brain can be treated by infusing the missing enzyme intravenously (IV, through a vein). However, IV infusions do not help the neurologic symptoms of the disease, because the enzyme cannot get into the brain. This study will use a new technique called convection-enhanced delivery to try to introduce glucocerebrosidase directly into the brain. This single-patient study includes an 8-month-old male with Type 2 Gaucher disease with progressive neurological decline. In preparation for the enzyme infusion, the patient will have a complete physical examination, including a detailed neurological examination, and blood and urine tests. On the day of surgery, the child will be placed under general anesthesia for magnetic resonance imaging (MRI) of the brain. MRI uses a magnetic field and radio waves to produce images of body tissues and organs. For this procedure, the child lies on a table that is moved into the scanner (a narrow cylinder), wearing earplugs to protect his hearing from the loud knocking and thumping sounds that occur during the scanning process. He will then be brought to the operating room for the infusion procedure, as follows: An incision will be made in the scalp and a small hole drilled through the skull. Then, a small tube (cannula) will be positioned through the hole into the target area in the brain. Once the tip of the cannula is in place, it will be connected with tubing to a syringe filled with glucocerebrosidase in saline (salt water). The child will then have a second MRI scan to make sure the cannula is placed correctly and to monitor delivery of the glucocerebrosidase to the brain. The child will be monitored closely with MRI scans every 30 to 60 minutes during the infusion to look for fluid in the brain and determine the extent of the enzyme perfusion. The infusion will last no longer than 6 hours and will be stopped when the full dose of enzyme has been delivered. The cannula will be removed and the scalp incision closed. The child will stay in the hospital for observation from 4 to 10 days, with at least 24 hours in the intensive care unit and 3 to 7 days in the pediatric unit. The child will be seen in the clinic two weeks after discharge and then once a month for 3 months to evaluate any possible effects of the surgery. These follow-up visits include a repeat MRI scan and neurological examination. After the first 3 months, visits may be less frequent. If the child continues to have symptoms during the course of follow-up or his neurologic status worsens, additional enzyme infusions will be offered, possibly including treatment of the brainstem. If the child gains no benefit after three infusions have been performed, no additional infusions will be offered. If there appears to be any neurological benefit, additional infusions may be offered.
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.
OBJECTIVES: I. Evaluate the efficacy and toxicity of glucocerebrosidase enzyme therapy in patients with Gaucher disease.
Gaucher disease is a lysosomal storage disease resulting from glucocerebroside accumulation in macrophages due to a genetic deficiency of the enzyme glucocerebrosidase. It may occur in patients of all ages. The condition is marked by enlargement of the liver and spleen (hepatosplenomegaly), low blood and platelet counts, and bone abnormalities. The condition is passed from generation to generation on via autosomal recessive inheritance. There are actually three types of Gaucher disease. Type I is the most common form. It is a chronic non-neuronopathic form, meaning the disease does not affect the nervous system. The symptoms of type I can appear at any age. Type 2 Gaucher disease presents prenatally or in infancy and usually results in death for the patient. Type 2 is an acute neuronopathic form and can affect the brain stem. It is the most severe form of the disease. Type 3 Gaucher disease is also neuronopathic, however it is subacute in nature. This means the course of the illness lies somewhere between long-term (chronic) and short-term (acute). Currently there is not a cure for Gaucher disease. Treatment for the disease has traditionally been supportive. In some severely affected patients, bone-marrow transplants have corrected the enzyme deficiency, but it is considered a high-risk procedure and recovery can be very slow. Enzyme replacement therapy is another therapy option and has been approved by the Food and Drug Administration (FDA) for use in type 1 patients. PEG-glucocerbrosidase is a drug designed to clear out the accumulation of lipid (glucocerebroside) from the blood stream. The drug is actually an enzyme attached to large molecules called polyethylene glycol (PEG). The large molecules of PEG allow the enzyme to remain in the blood stream for long periods of time. By modifying glucocerebrosidase with PEG, it is believed that smaller doses will be required, meaning a reduction in cost for the patient and more convenient administration of the drug. The purpose of this study is to evaluate the effects and safety of enzyme replacement therapy using PEG- glucocerebrosidase for the treatment of Gaucher disease.
Aims of the observational study is to establish novel blood-based biomarkers for grading bone disease in pediatric patients with Gaucher disease (GD). Patients with clinically confirmed GD: deficient GCase enzyme activity and corresponding genetic analysis will be eligible for enrollment. Levels of Lyso-Gb1, chitotriosidase, and CCL18 will be established for future bone biomarkers correlation analysis. Skeletal involvement will be assessed using standard clinical diagnostic tools, such as skeletal radiology and/or (DEXA). The comparator group will include age-matched healthy controls. Clinically confirmed patients with GD will be stratified based on their disease severity (Gaucher disease type 1 and Gaucher disease type 3) and bone pathology findings. In addition, given that growth is a dynamic process during the pediatric age group, results will be ascertained with respect to phases of growth, i.e., early childhood, late childhood, adolescent, and young adult age groups. At the conclusion of the study, investigatirs expect to establish specific biomarkers of bone development and pathology in pediatric GD patients.
This is a three-phase study comprising both retrospective and prospective components, as follows: Phase I: Deployment of Rare Disease Algorithm: A diagnostic screening algorithm was developed using advanced analytical methods to identify patients who have an increased likelihood of having Gaucher disease. This tool will be applied to a health system's electronic health records (EHR). The top 50 active patients per healthcare system will be identified as "highly ranked by the RDA" and moved to Phase II. As three to four healthcare systems are expected to participate in this study, between 150 to 200 persons are expected to be identified and included in Phase II. Phase II: Retrospective review of medical records of highly ranked persons: The listing of persons highly-ranked by the RDA from phase I will be forwarded to the study team within each participating healthcare system. After reviewing the RDA reports and medical records of each highly ranked person, study site personnel will determine eligibility for Phase III based on the relevant selection criteria listed in the section below. Phase III: Prospective diagnostic testing: Eligible persons (or their parent/guardian) from Phase II will be contacted and asked to provide consent for inclusion into the study. After consent is received, blood samples will be collected and sent for Gaucher diagnostic testing. Because of overlap in clinical symptoms between Gaucher disease and acid sphingomyelinase deficiency (ASMD), patients will also receive diagnostic testing for ASMD. Results will be shared with study site personnel, who will subsequently inform the study subject (and/or their parent/guardian, where appropriate) of results. It is anticipated that participation of a typical subject will be less than 3 months.
This is an observational study intended to generate preliminary data to understand how lysosomal dysfunction can affect the biogenesis of extracellular vesicles, its content and function. The primary objective of the proposed project is to decipher how extracellular vesicle (EV) biogenesis and its role in intercellular communication can be impaired as a consequence of defects in lysosomal function. Collectively these defects in EV biogenesis and function can contribute to the neuroinflammation observed in lysosomal storage diseases. Since EVs can cross the blood-brain barrier, their characterization may be valuable in identifying novel biomarkers. In the presence of a GBA1 mutation, the decrease in GCase activity will lower overall lysosome function and increase the secretion of EVs. Further, there will be differences in EV size, its cargo including lipids, RNA and proteins and their aggregates. In comparison to healthy controls, EVs isolated from patients with Gaucher disease (GD) and GBA1 carriers is hypothesized to show significant differences in terms of its characteristics and content, which can contribute to our understanding of the link between lysosomes and neurological disease.
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.
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 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 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.
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).
The main aim of this study is to learn if velaglucerase alfa (VPRIV) improves growth and symptoms in participants up to 5 years of age with Gaucher disease. Symptoms will be checked with blood tests. This study is about collecting data available in the participant's medical record as well as data from each participant's ongoing treatment. No study medicines will be provided to participants in this study. The study sponsor will not be involved in how participants are treated but will provide instructions on how the clinics will record what happens during the study. When the participants start the study, they will visit the study clinic every 6 months after their first visit.
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 study is being conducted to better understand the natural course of GM1 gangliosidosis, GM2 gangliosidoses and Gaucher disease Type 2 (GD2). Information is planned to be gathered on at least 180 patients with GM1 gangliosidosis, GM2 gangliosidoses, and Gaucher Disease type 2. Retrospective data collection is planned for at least 150 deceased patients (Group A). Group B is for patients alive at the time of enrollment. In Group B it is planned to prospectively collect more comprehensive data from at least 30 patients. The purpose of this study is to collect relevant information for a adequate design of a potential subsequent research program in these diseases. In this study no therapy is being offered.
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).
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.
The Gaucher Outcomes Survey (GOS) is an ongoing observational, international, multi-center, long-term Registry of Patients with Gaucher Disease irrespective of their treatment status or type of treatment received. No experimental intervention is involved. Patients undergo clinical assessments and receive care as determined by the patients' treating physician. The objectives of the registry include to evaluate the safety and long-term effectiveness of velaglucerase alfa, to characterize patients receiving velaglucerase alfa or other Gaucher Disease-specific treatments, to gain a better understanding of the natural history of GD and to serve as a database for evidence-based management of Gaucher Disease over time in real-life clinical practice.