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Niemann-Pick Disease, Type A
The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage.
Drugs by status
Approved for this indication (1)
Organizations
Organization Involved with Phase 4 Indications (1)
Organization Involved with Phase 3 Indications (6)
Organization Involved with Phase 2 Indications (13)
- Cyclotherapeutics
- National Institutes of Health (NIH)
- National Human Genome Research Institute (NHGRI)
- Cornell University
- Duke University
- Johns Hopkins University
- University of Louisville
- Columbia University
- Jiao Tong University
- Salford Royal Foundation NHS Trust
- University of Oxford
- Washington University in St. Louis
- IntraBio Inc
Organization Involved with Phase 1 Indications (4)