Serum and Plasma samples as well as urine samples from an overnight collection.

Fabry Disease

University of Minnesota

Universtity of Minnesota, Department of Pediatric Nephrology

Natural History and Structural Functional Relationships in Fabry Renal Disease Treatment Outcomes(Changes)in Fabry Renal Disease Study

Natural History and Structural Functional Relationships in Fabry Renal Disease Natural History, Structural Functional Relationships and Determinants of Renal Structural Responses (Changes) With Enzyme Replacement Therapy in Fabry Disease

Renal function measurements for the cross sectional natural history component will be urine protein excretion and measured/estimated GFR. Renal biopsies will provide estimates of the amount of GL-3 in various kidney structures. We will determine which structural parameter or composite of structural parameters is most closely associated with kidney function. For renal structural responses (changes) with ERT the primary outcome will the magnitude of reduction in podocyte GL-3 per glomerulus after (a)5 months, (b) 11 months, and (c) 60 months of ERT.

The secondary endpoint for the determinants of renal structural responses to ERT will be GL-3 reduction from baseline to 5, 11 and 60 months in a composite of structural parameters which will be determined in our natural history studies.

Rare Diseases Clinical Research Network

National Center for Advancing Translational Science (NCATS)

National Institute of Neurological Disorders and Stroke (NINDS)

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Washington University School of Medicine

Haukeland University Hospital

Whole blood on EDTA. Serum. Urine samples.

Biochemical analyses.

Clinical Research Center for Rare Diseases

Enzyme Replacement Therapy in Fabry Disease

Evaluation of the Long Term Efficacy of Enzyme Replacement Therapy in Fabry Disease

Mario Negri Institute for Pharmacological Research

Gaucher's Disease

human glucocerebrosidase cDNA

Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming Cells

Retroviral-Mediated Transfer and Expression of Glucocerebrosidase and Ceramidtrihexosidase (a-Galactosidase A) cDNA's in Human Hematopoietic Progenitor Cells