All four patients showed a rapid improvement or correction of kidney function. Based on the safety and efficacy profile observed in the Phase 1 study, six patients from the Phase 1 trial have continued to receive TAU on a daily basis for one to three years. Secondary endpoints will include, as appropriate, seizure reduction, growth, development, neuromuscular function and behavior. The lead site will be the UCSD Metabolic and Mitochondrial Research Center and will include several other sites in North America. Pending discussions with the FDA, the trial is designed to recruit 40-60 patients who will receive TAU or a placebo for approximately 6 months.
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, movement disorders, kidney disease and growth and developmental delays in children. In its severest forms, mitochondrial disease can lead to death before the age of ten. The UCSD Mitochondrial and Metabolic Disease Center is a leading center for research, diagnosis and treatment of mitochondrial disease. Repligen Corporation develops new drugs for debilitating pediatric disorders including autism, cancer, and immune and metabolic disorders. Repligen also manufactures and markets a set of patented products based on Protein A, which are used by the pharmaceutical industry to produce therapeutic antibodies.