Gaucher Disease
An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
Drugs by status
Approved for this indication (5)
Phase 4 trials (3)
Phase 3 trials (7)
Phase 2 trials (16)
Organizations
Organization Involved with Phase 4 Indications (8)
Organization Involved with Phase 3 Indications (21)
- ISU Abxis Co., Ltd.
- Cairo University
- University of London
- Children's Memorial Health Institute, Poland
- Duke University
- Emory University
- New York University
- Northwestern University
- University of Kansas
- University of California, San Francisco
- University of Cambridge
- University of Cincinnati
- All India Institute of Medical Sciences
- University of Minnesota
- University of Zaragoza
- Malabar Institute of Medical Sciences
- University of Wisconsin
- Sociedad Espanola de Socorros Mutuos
- La Rabta Hospital
- Your Health Inc.
- IQVIA
Organization Involved with Phase 2 Indications (16)
- Amicus Therapeutics
- Orphazyme
- National Institutes of Health (NIH)
- National Center for Research Resources (NCRR)
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- National Institute of Neurological Disorders and Stroke (NINDS)
- University of Pittsburgh
- Jaslok Hospital and Research Centre, Mumbai, India
- Maria Sklodowska Curie Children's Hospital
- Mother and Child Health Care Institute of Serbia
- National Center for Advancing Translational Science (NCATS)
- Lysosomal Disease Network
- Zywie Bio LLC
- AvroBio
- University Clermont Auvergne
- Prevail Therapeutics
Organization Involved with Phase 1 Indications (2)
Organization Involved with Other Experimental Indications (1)