Under the terms of the license agreement, Repligen receives exclusive commercial rights to both inventions and will pay UCSD an up-front fee, clinical development milestones and royalties on product sales. One patent application covers the use of analogs of uridine, a naturally occurring component of RNA and DNA, for the treatment of diseases characterized by defects in the function of mitochondria.
Mitochondria are structures essential for many cellular functions including energy production.
Inborn forms of mitochondrial disease affect approximately 20,000 people in the United States and result in symptoms including seizures, skeletal and heart muscle weakness and neurological and cognitive defects. These studies have shown that uridine and TAU are well tolerated in this population for more than two years. Some of these patients have also shown marked improvements in their symptoms including cognitive performance, muscle control and renal function. A second patent application covers the use of uridine and TAU for the correction of defects in purine metabolism which produce the symptoms of autism or pervasive developmental disorder. A recently published study from UCSD reports that some autistic patients have evidence of a purine metabolism defect.