Active clinical trials for "Gaucher Disease"

This study plans to analyze the molecular and clinical mechanisms of the relationship between the GBA mutations and Parkinson's disease. This will be assessed through the use of advanced neuroimaging techniques called PET (positron emission tomography) to study the accumulation of the tau protein and the dysfunction of acetylcholine and dopamine in the brain of people with a mutation in the GBA gene, with and without Parkinson's disease. The ingestigators will also use a technology-based assessment to study the typing patterns as possible biomarkers of early motor dysfunctions.

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.