Research

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

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 Action Date: 04/22/2013
Expiration Date: 04/23/2014 

HIC Protocol #: 1005006738
Study Title: Biomarker Discovery and Validation in Gaucher Disease
HIC Action Date: 05/29/2013
Expiration Date: 06/02/2014

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
HIC Action Date: 05/03/2012
Expiration Date: 09/02/2013

HIC Protocol #: 111000918
Study Title: Gaucher Disease Outcome Survey (GOS)
HIC Action Date: 09/26/2012
Approval Date: 09/26/2012
Expiration Date: 09/25/2013