Active clinical trials for "Gaucher Disease"

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 lysosomal storage disease resulting from glycocerebroside accumulation in macrophages due to a genetic deficiency of the enzyme glucocerebrosidase. It may occur in adults but occurs most severely in infants, in whom cerebroside also accumulates in neurons. Patients with Gaucher's disease experience enlargement of the liver and spleen and bone destruction. The condition is passed from generation to generation through autosomal recessive inheritance. There are actually three types of Gaucher's disease. Type I is the most common form. It is a chronic non-neuronopathic form, meaning the disease does not affect nerve cells. The symptoms of type I can appear at any age. Type II appears in infancy and usually results in death for the patient. Type II is an acute neuronopathic form and can affect the brain stem. It is the most severe form of the disease. Type III 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). The purpose of this study is to examine the effects of enzyme replacement therapy on patients with Gaucher's disease, specifically those types directly affecting the nervous system (neuronopathic). Patients with Gaucher's disease types II and III will be selected to participate in the study and receive enzyme replacement therapy. Patients participating will undergo a variety of tests to measure levels of hemoglobin concentration, liver volume, and spleen volume. Improvements in these measures will be compared other laboratory tests measuring the involvement of the nervous system.

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.

The purpose of this study is to proof increasing patient satisfaction and preservation of quality of life in patients with Gaucher's Disease receiving their enzyme replacement therapy with VPRIV (Velaglucerase alfa)at their home setting compared to receiving the infusions at the clinic or at doctor's practice.

The investigated cohort will examine liver and spleen fibrosis in patients with Gaucher disease divided into two groups, naive GD patients and GD patients treated with ERT. As liver biopsy in these patients not recommended because the risk of bleeding using Fibroscan is a safe with diagnostic accuracy regarding the liver (& Spleen) fibrosis. Estimating spleen fibrosis is an innovative approach in liver disease and Gaucher. The evaluation of fibrosis with this new and safe method could avoid complications antiinvasive procedure in GD patients. The addition of fibrosis biomarkers will help for patients score evaluation. The finding of liver and spleen stiffness will be evaluated in native and ERT treated Gaucher patients in order to assess ERT effect on fibrosis. The Aims are: 1) To assess liver and spleen stiffness measurement using fibroscan and evaluate liver and spleen fibrosis in patients with GD. 2) To compare the elastography in two cohorts of GD patients: ERT treated and naïve GD patients and two control groups of patients: healthy and Non Alcoholic Steatohepatitis (NASH) patients. 3) To correlate the elastography findings with clinical and laboratory data in the four patient groups focusing on Gaucher disease manifestations and GD severity. To compare the elastography in GD naïve and ERT treated patients.

This study will use positron emission tomography (PET) to compare how people with Gaucher disease or Gaucher disease carriers with parkinsonism, and their family members, use dopamine in their brains in comparison with healthy normal volunteers and people who have Parkinson disease. PET assesses organ function by measuring metabolism. In this study, magnetic resonance imaging (MRI) is used in conjunction with PET to help better interpret and understand the information gleaned from PET. People 21 years of age and older with the following conditions may be eligible for this study: Gaucher disease and parkinsonism Parkinsonism and a family history of Gaucher disease Gaucher disease and a family history of parkinsonism Gaucher disease carriers who have parkinsonism or a family history of parkinsonism Unaffected people with a family history of Gaucher disease and parkinsonism Healthy volunteers Participants undergo the following tests and procedures: Personal and family medical history Physical examination PET scan: The subject lies on a table that slides into the PET scanner until his or her head is positioned properly in the scanner. A catheter is inserted into a vein. An initial scan is done to obtain images before radionuclides are injected. Radioactive water is then injected through the catheter and the subject is asked questions in order to stimulate blood flow in certain areas of the brain to show what parts of the brain are activated. Fluorodopa is then infused through the catheter over 3 minutes. The PET scan can last up to 2 hours. MRI scan: This test uses a magnetic field and radio waves to obtain images of organs. The subject lies still on a bed in the middle of a circular scanner for about 30 minutes.

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.

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.

This project is a randomized controlled trial to use a mobile health journal, called Zamplo (formerly known as MyHealthJournal or ZoeInsights), to record patient reported outcomes (PROM) in patients with metabolic disorders. The objective of the study is to assess the feasibility, acceptability and potential effectiveness of the Zamplo. The primary hypothesis is as follows: The Zamplo platform will significantly increase patient activation at 6 months post-baseline, defined as an individual's knowledge, skill, and confidence for managing their health and health care. The primary outcome is as follows: Patient activation following the use of Zamplo will serve as the primary outcome of interest and will be measured by the Patient Activation Measure (PAM) 13. The PAM 13 shows the degree of the patient's ability to manage their health with confidence by providing a total patient activation score. Brief Background: This project is a randomized controlled trial to use a mobile health journal, called Zamplo, to record patient reported outcomes (PROM) in patients with metabolic disorders. Zamplo is a software as a service (SaaS) digital platform on both iOS and Android platforms that allows real-time entry of patient symptoms and response to medications. It provides the patients with an interface to see their progress, store questions that they will ask at the next clinic visit, record their health data and use their data to engage in their health outcomes. MAGIC Clinic Ltd., which is the largest clinic in Alberta that manages metabolic disorders such as Fabry disease, Pompe disease, and Gaucher disease, will provide access to Zamplo to patients free-of-charge to evaluate its utility in managing the symptoms of their disease. Brief Study Design: The study is a two-armed randomized controlled design with 1:1 allocation to treatment (Zamplo app group) or control (usual care) arms, with assessments at four time points: baseline, 1 month, 3 months (primary outcome), 6 months and 12 months follow-up post-baseline. This is an open-label trial. The investigators intend to recruit 150 participants in this study, with 75 of them being controls. Inclusion Criteria: Adult patients with a diagnosis of metabolic disease Access to a smartphone with data connection Willingness to devote 10-15 mins of time in a day to log medications and notes Able to speak and write English sufficiently to complete questionnaires. Exclusion Criteria: Insufficient cognitive function to participate in the study The use of any electronic application requires some competency with the software on a cellphone, downloading the application and entering the data. Some patients who are elderly may not be familiar with this technology and would be excluded.

The lysosomal storage disorders (LSDs) are monogenic disorders associated with inflammation affecting multiple organs, and early death. Few treatments are available that can modify the disease course, and there is an urgent need to identify new steps in pathogenesis that can be targeted therapeutically. The complement system is novel and highly plausible as a primary driver of inflammation and cellular injury in the LSDs. This study assesses the complement activation state in patients with Fabry disease (FD), Gaucher disease (GD) and Niemann-Pick disease, type C (NPC), with comparison to healthy controls. This has the potential for immense clinical benefit through targeted complement inhibition across the full spectrum of lysosomal storage disorders, in which key pathophysiological processes including the inflammatory response to lysosomally 'stored' materials are shared.