READISCA

READISCA is an NIH-funded international clinical trial readiness study for spinocerebellar ataxia type 1 (SCA1) and type 3 (SCA3). These SCAs belong to a group of 50 autosomal dominant diseases that cause degeneration of the cerebellum and variable other parts of the nervous system. Patients with these SCAs suffer from progressive loss of balance, hand incoordination, slurred speech and additional features leading to eventual total disability and premature death. There are no efficacious treatments other than supportive therapies. Patients with SCA1 show the fastest progression of the disease while SCA3 is the most common SCA worldwide, and both share an expansion of the tract consisting of tandemly repeated CAG triplet units in the respective genes (ATXN1 and ATXN3). Scientists successfully identified these mutations in 1990s and extensively studied the biological pathways through which the genetic mutation leads to the respective diseases. These advances in research have resulted in..

Primary location: Houston United States