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. Evaluate bronchoalveolar lavage fluid and serum obtained from pediatric patients with storage disorders prior to allogeneic hematopoietic stem cell transplantation (HSCT) for the presence of proinflammatory cytokines and for the production of nitric oxide by alveolar macrophages to identify possible risk factors for pulmonary complications. II. Investigate the underlying mechanism for the development of significant pulmonary complications in these patients during HSCT. III. Evaluate bronchoalveolar lavage fluid and serum obtained from these same patients at the time a pulmonary complication develops post-HSCT, or at 60 days post-HSCT if there has been no pulmonary complications.
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.
OBJECTIVES: I. Evaluate the efficacy and toxicity of glucocerebrosidase enzyme therapy in patients with Gaucher disease.