Tuberous Sclerosis
Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.
Drugs by status
Approved for this indication (2)
Phase 4 trials (1)
Phase 3 trials (3)
Phase 2 trials (7)
Phase 1 trials (2)
Other trials (1)
Organizations
Organization Involved with Phase 4 Indications (5)
Organization Involved with Phase 3 Indications (8)
Organization Involved with Phase 2 Indications (21)
- Wyeth
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
- Marinus Pharmaceuticals
- Yiling Pharmaceutical Inc.
- National Institute of Neurological Disorders and Stroke (NINDS)
- Harvard University
- New York University
- University of Sussex
- University of Tennessee
- University of Bordeaux
- Cardiff University
- University of Cincinnati
- University of Texas at Houston
- University of Alabama, Birmingham
- The LAM Foundation
- Autism Speaks
- Tuberous Sclerosis Alliance
- Seizure Tracker LLC
- The Tuberous Sclerosis Association
- Aucta Pharms
- Chinese Academy of Medical Sciences
Organization Involved with Phase 1 Indications (2)