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Lysosomal Disease Program

National Gaucher Disease Treatment Center
Welcome to the Yale School of Medicine Lysosomal Disease Program website. The program is based within Yale School of Medicine’s Liver Center and Section of Digestive Disease, a premier national academic center. The National Gaucher Disease Treatment Center was formed in 2001 and over the years it has attracted referrals nationally and internationally and garnered major funding for research from the NIH, National Gaucher Foundation and Foundations. Our core mission is compassionate care with cutting-edge personalized medicine based innovative science.

For more than a decade, we have striven towards excellence in clinical care, research and education in Gaucher disease, the prototype lysosomal storage disease. Our Core mission is advancing patient care through cutting edge clinical translational research to enhance predictive evaluation and monitoring while offering a wide repertoire of therapies.

Clinical and Research Programs

We currently offer comprehensive clinical and research programs in Gaucher disease that include clinical trials, research utilizing disease Registries, mechanism of bone disease, whole genome analysis, biomarker discovery, multiple myeloma, liver cancers, Parkinson’s disease and authentic mouse models of Gaucher disease. We have a national and international referral base arising from our well-recognized expertise in managing the most complex and challenging patients with Gaucher disease.

Our 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.

  • Mechanisms of bone disease in Gaucher disease: This 5-year research proposal Received top score (1st percentile) by the NIH and funding is expected to begin in the fall. This research will delineate mechanisms underlying bone disease in Gaucher disease and aims to discover new targets for therapy. This research is joint collaborations between Yale (Dr Pram Mistry) and Mount Sinai School of Medicine (Dr Mone Zaidi).
  • 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.
  • “The Natural History of Type 1 Gaucher Disease, Impact of Modifier Genes and Enzyme Replacement Therapy with Imiglucerase” HIC Protocol #: 0209021074

Clinical Trials
  • A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study Confirming the Efficacy and Safety of Genz-112638 in Patients with Gaucher Disease Type 1 (ENGAGE): NCT00891202
  • A Phase 3, Randomized, Multicenter, MultiNational, Double-Blind Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of Once Daily vs Twice Daily Dosing of Genz-112638 in Patients with Gaucher Disease Type 1 who have Demonstrated Clinical Stability on a Twice Daily dose of Genz-112638 (EDGE): NCT01074944
  • A Phase 3, Randomized, Multi-Center, Multi-National, Open Label, Active Comparator Study to Evaluate the Efficacy and Safety of Genz-112638 in Patients with Gaucher Disease Type 1 who have been Stabilized with Cerezyme (ENCORE): NCT00943111

International Gaucher ICGG Registry

HIC Protocol #: 1203009814
Study Title: The Rare Diseases Registry Program, including but not limited to, Gaucher, Fabry, MPS I, and Pompe Diseases Committee Action Expedited Approval

HIC Protocol #: 1005006738
Study Title: Biomarker Discovery and Validation in Gaucher Disease

HIC Protocol #: 0908005626
Study Title: A Multicenter Open-Label Treatment Protocol to Observe the Safety of Gene-Activated® Human Glucocerebrosidase (GA-GCB, Velaglucerase alfa) Enzyme Replacement Therapy in Newly Diagnosed or Previously Treated (with Imiglucerase) Patients with Type 1 Gaucher Disease