View clinical trials related to Gaucher Disease.
Filter by:The investigators are interested in determining if the investigators are able to detect changes in brain chemistry using Magnetic Resonance Spectroscopy (MRS) in individuals with Parkinson's disease (PD), those with Gaucher's disease (GD), and those without neurological disorders (healthy controls) when they are given the antioxidant N-acetylcysteine (NAC). This study will combine information from a medical history, a physical examination and disease rating scales with results obtained using MRS brain scans and pharmacokinetic studies from blood samples. This research will require 1 visit that will require about 4 to 5 hours of time. During this study, participants will provide their medical history, be examined and undergo a rating scale for about one hour; the brain scan and pharmacokinetic studies will require 1.5-2 hours of time; in total the study will take about 4-5 hours.
This is a multi-center trial to further extend the assessment of the safety and efficacy of taliglucerase alfa in adult subjects (≥18 years old) with Gaucher disease who have enrolled in Protocol PB-06-003. Subjects will continue to receive an intravenous (IV) infusion of taliglucerase alfa every two weeks. The duration of treatment will be a maximum of 21 months or until taliglucerase alfa is commercially available to the subject at the discretion of the Sponsor.
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.
A protocol to extend the assessment of the safety and efficacy of taliglucerase alfa in pediatric subjects (2 to <18 years old) with symptoms and clinical manifestations of Gaucher disease who completed treatment in Protocols PB-06-002 (switchover study from imiglucerase) or PB-06-005 (naïve treatment with taliglucerase alfa).
The purpose of this study is to determine if participants have changes in dopamine cells in their brain using DaTSCAN™ brain imaging. Dopamine cell loss occurs in Parkinson's disease (PD) and other degenerative Parkinsonian disorders, but does not occur in most other movement disorders such as essential tremor or dystonia. DaTSCAN, which is also known as 123I-Ioflupane, is a new compound that has been developed by General Electric, Inc. and has been approved by the US Food and Drug Administration (FDA) to help doctors detect changes in dopamine. This test is performed by injecting DaTSCAN into a vein in the arm, and after a few hours, a large amount of DaTSCAN temporarily accumulates in an area of the brain where there are a lot of dopamine brain cells. Because DaTSCAN contains a small amount of radioactive iodine, it allows doctors to use a special machine called single photon emission computed tomography (SPECT) scanning to detect the location and amount of radioactivity in the brain and help determine if there are changes in brain dopamine. It is hoped that this study will help doctors detect the presence of dopamine changes even before symptoms are present. This study will evaluate DaTSCAN in people with PD, those who are at risk for developing PD (e.g., those with idiopathic rapid eye movement sleep disorder (iRBD) and those who are heterozygous or homozygous for Gaucher's disease (GBA) mutations) and those who are healthy volunteers.
Gaucher disease (GD), the inherited deficiency of the lysosomal enzyme glucocerebrosidase is characterized with accumulation of abnormal lipid in cells of the immune system, called macrophages. Lipid engorged macrophages, then become activated, and are also called "Gaucher cells". The mechanisms leading to macrophage activation is not fully known, however several findings in individuals with GD, such as non-specific inflammation,clinically resembling a rheumatic disease with an increased sedimentation rate, joint pain, and extreme fatigue, in addition poor wound healing, and a predisposition to diabetes may suggest an inappropriately functioning immune system in GD. The pathways leading to macrophage activation could be related to the accumulation of lipid metabolites or through the effects of other immune cells. In this study, immunologic profiling and functional assays will be performed in peripheral blood samples from patients with GD. The identification of the immunologic basis of GD will lead to the the development of new disease markers and different treatment options.
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 aim of this study is to evaluate macrophaging activity and immunologic profile of patients with Gaucher 's disease. For this, one blood sampling will be performed.
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.
This is a multi-center, double-blind trial to assess the safety and efficacy of taliglucerase alfa in untreated subjects (2 to <18 years old) with Gaucher disease randomly assigned to treatment with one of two doses, 30 or 60 units/kg. Subjects will receive an intravenous (IV) infusion of taliglucerase alfa every two weeks. The total duration of treatment will be 12 months. At the end of the 12-month treatment period eligible subjects will be offered enrollment in an open-label extension study if taliglucerase alfa is not commercially available.