View clinical trials related to Gaucher's Disease.
Filter by:A study to assess the absorption of eliglustat through the mouth in healthy subjects and the safety of any systemic exposure resulting from oral surface absorption of eliglustat in healthy subjects.
The primary objective of the study is to evaluate dose proportionality and pharmacokinetics for three different dose levels of eliglustat after single and repeated administration.
Primary Objective - To evaluate the efficacy on hematologic manifestations of imiglucerase treatment in Chinese patients who are diagnosed as Gaucher disease type Ⅲ - To evaluate the safety profile of imiglucerase in maximum dose in the label (60U/kg, IV biweekly) in Chinese patients. Secondary Objective - To evaluate the efficacy on viscera manifestations of imiglucerase treatment in Chinese patients who are diagnosed as Gaucher disease type Ⅲ - To evaluate the efficacy on bone disease of imiglucerase treatment in Chinese patients who are diagnosed as Gaucher disease type Ⅲ - To evaluate the effect on quality of life of imiglucerase treatment in Chinese patients who are diagnosed as Gaucher disease type Ⅲ
The purpose of this clinical trial is to investigate the safety of human placental-derived stem cells (HPDSC) given in conjunction with umbilical cord blood (UCB) stem cells in patients with various malignant or nonmalignant disorders who require a stem cell transplant. Patients will get either full dose (high-intensity) or lower dose (low intensity) chemo- and immunotherapy followed by a stem cell transplantation with UCB and HPDSC.
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.
The purpose of this study is to determine the safety and engraftment of donor hematopoietic cells using this conditioning regimen in patients undergoing a hematopoietic (blood forming) cell transplant for an inherited metabolic storage disease.
OBJECTIVES: I. Determine the efficacy of alendronate sodium in treating osteopenia (generalized bone density and focal bone lesions) in patients with Gaucher's disease.
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.
The purpose of this study is to examine how the skeleton responds to repeated doses of enzyme replacement therapy in patients with type I Gaucher's disease who have had their spleens removed. 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. 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. In this study patients will be divided into three groups. Each group will receive different doses of enzyme replacement (Ceredase). In addition, two of the three groups will also receive doses of a form of vitamin D (calcitriol). Researchers believe the groups receiving vitamin D will have an improved response as compared to those patients only receiving enzyme replacement. Patients in each group who respond to enzyme replacement with increases in bone density will be compared to the other treatment groups.
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.