• Analysis of Gaucher disease gene, GBA1 to identify mutations and whole genome analysis when indicated • Enzyme analysis, blood counts inflammatory markers including cytokine profiling • Bone assessments: MRI, DXA bone density, plain radiology • Liver Assessments: MRI, LFTs, gallstones, cancer screening • Spleen Assessment: MRI • Lungs: Imaging and Doppler echocardiogram • Biomarkers: chitotriosidase, CCL18, immunoglobulins, SPEP, HDL, ferritin and iron panel, lipids that accumulate in Gaucher disease (GL1 and Lyso GL1) and immune profiling • Assessment of need for Enzyme Replacement Therapies • Assessment of need for orally administered SRT • Genetic counseling Research Research encompasses clinical trials of new therapies, biomarker discovery, genomic studies to discover genes that modify the course of Gaucher disease and animal models to decipher disease mechanisms such as those underlying bone involvement. This focus is reflected in the following areas studied by the center’s staff: • Mechanisms of bone disease in Gaucher disease: This NIH-funded research will delineate mechanisms underlying bone disease in Gaucher disease and aims to discover new targets for therapy. IACUC PROTOCOL NUMBER: 2010-10872: Animal Models of Gaucher Disease • Yale Center of Excellence in Clinical Translational Research in Gaucher Disease: Aims are to use biomarkers and genomic expression profiles to stratify patients by severity and response to therapy. 20 Advances in Gaucher Disease • Discovery of novel biomarkers: glucosylsphingosine, gpNMB and chitinases • Study of immune mechanisms of Gaucher disease • Study of mechanism underlying Gaucher disease/ Parkinson disease association using novel GD/PD mice and treatment with CNS-penetrant SRT. The center also participates in these studies: HIC Protocol #: 0209021074 Study Title: “The Natural History of Type 1 Gaucher Disease, Impact of Modifier Genes and Treatments” Biomarkers study: HIC Protocol #: 1005006738 Study Title: Biomarker Discovery and Validation in Gaucher Disease Committee Action Expedited Approval Gaucher Generation Program Study: HIC Protocol #: 1412015101 Studies to Delineate Specific Phenotypes of Gaucher disease and decipher respective biomarker signatures and genetic underpinnings Gaucher Registry: HIC Protocol #: 1203009814 The Rare Diseases Registry Program, including but not limited to, Gaucher, Fabry, MPS I, and Pompe Diseases Genetic studies for liver disorders: HIC Protocol #: 1503015498 Genetic studies for liver disorders New studies coming in 2017: Clinical trials of cerdelga in pediatric population CNS-penetrant SRT for type 3 Gaucher disease AGD
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