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NCT03625882
The objective of this post-marketing survey study is to collect data to determine the safety and efficacy of velaglucerase alfa (VPRIV) in participants with Gaucher disease who are new to therapy or have been switched from another therapeutic agent for Gaucher disease.
NCT05992532
The study of splenomegaly, and the follow-up of splenectomized patients, is one of the causes of referral of these patients to pediatric gastroenterology and oncohematology clinics, and adult internal medicine and hematology. The study and management of splenomegaly is well described among the different medical specialties to which these patients arrive. After the application of the different algorithms and the different studies that are carried out, these splenomegaly are identified as being of hepatic, infectious, inflammatory, congestive, hematological origin and primary causes. Despite these studies of splenomegaly, approximately 10-15% of these patients still remain undiagnosed. Several studies have suggested that there is an increased frequency of MGUS (monoclonal gammopathy of undetermined significance) and/or multiple myeloma (MM) among Gaucher patients. Regarding ASMD (Acid Sphingomyelinase Deficiency), few studies have been published but it seems the 21% of patient with ASMD has MGUS and 15% ASMD patients have MGUS. Moreover, patients with MGUS and Gaucher disease (GD) are at increased risk of developing MM. The objective of the present study is to increase the diagnostic sensitivity of these unknown splenomegalys, or unknown splenomegaly patients with MGUS or multiple myeoloma who remain in consultations, using the usual diagnostic clinical procedures of unknown splenomegaly and unknown splenectomy patients, where we include the extraction of a blood sample for dry drop test (DBS), where the determination of the enzymatic/genetic activity will be carried out for Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD) , analysis of LisoGl1 and LisoSM.
NCT06573723
The goal of this observational study is to create a single macro registry system with data collection on common clinical features, grouping the different rare diseases (RD). Moreover, the specific goals are to generate an alert system for possible cases of RD with data from the electronic medical record, to describe the occurrence of RD in the evaluated population, to characterize the population, to describe patterns of diagnosis and treatment of RD present at the time, and to explore patient-reported outcomes.
NCT05487599
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 in an expansion cohort. For each enrolled patient, the study will be approximately 5 years in duration, including up to a 60-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 for an additional 42 months to monitor safety, immunogenicity, and selected biomarker and efficacy parameters.
NCT03190837
The study aims are to: a) identify the long-term natural history of Gaucher disease, b) evaluate long-term treatment efficacy of enzyme replacement therapy (ERT) and substrate reduction therapy (SRT), and c) identify potential long-term complications of this disorder. These aims will be accomplished through long-term record review of individuals with all three types of Gaucher disease.
NCT05702814
Substances in the body, so-called biomarkers, can help predict the severity of Gaucher disease (GD)-related bone problems in adults. The main aim of the study is to determine if certain biomarkers found in the body at the time of diagnosing GD can help predict the risk of bone problems after 4-5 years. There is no treatment involved in this study. The study will review previously collected participants' data using a database. Data from both adults with type 1 Gaucher condition as well as healthy adults will be compared.
NCT04718779
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.
NCT05253560
Objective of the trial. To define a sub-population which is at increased risk of developing Parkinson, beyond the fact of carrying Gaucher; in this sub-population the investigators shall conduct a comprehensive evaluation that includes a variety of non-invasive tests, whose purpose is to evaluate the state of the pre- Parkinson's disease signs, signs which can appear, even twenty years before the appearance of the disease, and also to compare them to a group of diagnosed Gaucher patients and a group of healthy people who are not carriers of Gaucher disease. A group of those carriers will be available for trial or for treatment, if there will be a medicine for the prevention of the development of Parkinson, obtainable.
NCT06050967
An open-labeled, prospective, single-center proof-of-concept study. Patients with Gaucher Disease aged 18-75 who received intravenous Enzyme Replacement Therapy once every two weeks were enrolled. The study utilized the Altus Care™ cellular phone-based application, which integrated an algorithm-based approach to provide random dosing regimens within a pre-defined range determined by the physician. The app allowed personalized therapeutic regimens with variations in dosages and administration times.
NCT04429984
The main aim of this study is to measure the safety and to find out the effects of VPRIV in participants with Gaucher disease using both retrospective and prospective data when used in the post-marketing setting and to collect genetic mutation data from participants with Gaucher disease. 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. When the participants start the study, they will visit the study clinic close to approximately 12 months.
NCT03896607
The investigated cohort will examine liver and spleen fibrosis in patients with Gaucher Disease(GD) by using Shear Wave Elastography- SWE to evaluation fibrosis of the tissue and to check the correlation of fibrosis with the biomarkers of disease severity.
NCT04120506
Background: In order to allow our satisfied patients, who have successfully completed 24 months of rapid intravenous infusion of Velaglucerase alfa (VPRIV), to continue with the 10 minutes IV therapy, the clinical trial framework must be extended; and this extension is important for the assessment of long term benefit (up to 5 years) of this regimen of administration of Velaglucerase alfa.. Suggested trial: An additional 36 months home therapy follow up of safety and efficacy of rapid intravenous infusion of Velaglucerase alfa (VPRIV) in adult patients with type 1 Gaucher disease. Patients must have completed the prior 4 parts / 24 months of the protocol before enrolling into this extension phase ("Part 5") and have provided a new consent before entering PART 5 of the study. Patients must not have experienced clinically significant AEs, including allergic reactions, in any of the prior study parts of this protocol to be eligible to participate, and have maintained stability in the key disease features. All infusions of 10' will be given in the context of home therapy. "Clinically significant" AEs will be determined by the PI using standard description of AEs as previously described at phase 3, and if necessary will support withdrawal of the patient from the study.
NCT04353466
The objective of this study is to assess Elelyso treatment on bone disease in Gaucher patients currently treated with other enzyme replacement therapy. Experience from early access program (2009-2012) has suggested that some patients who have been stable on imiglucerase have shown poor scores of QCSI with Fat Fraction below the cut off point of 0.23 which is considered "bone at risk", and have demonstrated remarkable improvement upon switching to Elelyso, including particularly 2 patients who did not have any change in dose or any drug interruption prior to the switch. These findings may be explained by the better glycan structure of imiglucerase (see Tekoah et al, 2013). The fact that in many patients prevention of bony complications is the main indication for ERT highlights the importance of this study, as all clinical trials of all ERTS heretofore did not include the bones as primary or secondary end-points but only as exploratory, and as such had only limited value,
NCT03519646
Evaluation of the safety in the combination usage of Cerdelga and Cerezyme in type III Gaucher disease patients and the efficacy on soft tissue diseases.
NCT03333447
This study with standardized reading MRIs, will provide for the first time objective and quantified data on organomegaly (liver and spleen volumes) as well as bone alteration (Bone Marrow Burden11) of French patients treated with VPRIV®. These data will help to better assess the impact of this treatment on these parameters. The result of this study will also answer in part to the request of the French Transparency Commission (CT: Commission de Transparence) of the French National Health Authority to provide them with data of French patients treated with VPRIV®.
NCT03021941
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.
NCT01417520
Background: \- Erdheim Chester Disease (ECD) is a very rare disease in which abnormal white blood cells start growing and affect the bones, kidneys, skin, and brain. ECD can cause severe lung disease, kidney failure, heart disease, and other complications that lead to death. Because ECD is a rare disease, found mostly in men over 40 years of age, there is no standard treatment for it. More information is needed to find out what genes can cause ECD and how best to treat it. Objectives: \- To collect study samples and medical information on people with Erdheim Chester Disease. Eligibility: \- Individuals 2 to 80 year of age who have been diagnosed with Erdheim Chester Disease. Design: * Participants will be screened with a physical exam and medical history. * Participants will have a study visit to provide samples for study, including blood, urine, and skin tissue samples. Participants will also have lung, heart, and muscle function tests; imaging studies of the brain, chest, and whole body; a treadmill running stress test; an eye exam; and other tests as needed by the study doctors. * Participants will be asked to return for a similar set of tests every 2 years, and to remain in contact for possible treatment options.
NCT00712348
This is a multi-center, open-label, switchover trial to assess the safety of taliglucerase alfa in 30 patients with Gaucher disease who are currently being treated with imiglucerase (Cerezyme®) enzyme replacement therapy.
NCT00446550
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).
NCT01344096
In Gaucher disease type I bleeding is a common presenting symptom, that may manifest itself as frequent nose bleeds, easy bruising but can also cause substantial bleeding after surgical or dental procedures and may occur in association with pregnancy or delivery . The bleeding tendency is usually considered to be secondary to thrombocytopenia However 50,000 platelets are enough in healthy people to give a normal bleeding time but are associated with significant bleeding tendencies in Gaucher patients. Bleeding tendency might be attributed by genetic inherited or Gaucher related coagulation factors abnormalities which in some cases stabilize with ERT. However, In other cases the etiology is an abnormality of platelet function. This thrombocytopathy has not been delineated and apart from a few aggregation studies, no systematic analysis has been published that convincingly shows the cause of the disturbed function. While, experience shows that enzyme replacement (ERT, i.e: imiglucerase, Cerezyme®) reduces this bleeding tendency, in part due to the improvement in the thrombocyte count and elevation in coagulation factors, it is less clear what effect ERT has on the thrombocytopathy. This has clinical significance when patients need to be prepared for surgery or delivery or in the event of a major bleed. There is no consensus as to how patients should be prepared or treated. Different centres use different approaches. When the procedure is elective ERT is appropriate but in other situations DDAVP, fresh frozen plasma and platelet infusion are possible treatments. Even activated factor VII has been used when bleeding was not controlled. As in any other coagulation abnormality, treatment should be tailored to the specific cause of the bleeding diathesis. The aim of this study is to define the etiology of platelet dysfunction in Gaucher patients. Hypothesis: The investigators expect to see a difference between platelets activation profile among imiglucerase treated and untreated patients with at least a partial restoration of platelets function due to treatment commencement.