Dr. Manisha Balwani is an Associate Professor in the Department of Genetics and Genomic Sciences and Department of Medicine at the Icahn School of Medicine at Mount Sinai. She is the Director of the Lysosomal Disease Program and the Comprehensive Porphyria Diagnostic and Treatment Center at Mount Sinai. Dr. Balwani was the Principle Investigator for the phase 3 ENVISION trial, which evaluated givosiran, an investigational RNAi therapeutic targeting aminolevulinic acid synthase 1 (ALAS1), for acute hepatic porphyria. An NDA was filed with the U.S. FDA based on the data from this trial and the NDA was recently accepted with Priority Review.
Dr. Balwani completed her medical training at the University of Bombay, followed by a Master’s in Genetics at the University of Pittsburgh. She completed her training in Internal Medicine followed by a fellowship in Medical Genetics and Clinical Biochemical Genetics. She joined the faculty of the Department of Genetics at the Icahn School of Medicine in 2006.
Her initial research efforts were focused on the natural history and genotype-phenotype correlations of Gaucher disease. She served as Principal Investigator for therapeutic clinical trials for new therapies for Gaucher disease and Lysosomal Acid Lipase deficiency. Her recent research efforts have been focused on the acute and cutaneous porphyrias. She is an investigator for the NIH supported Rare Diseases Clinical Research Network’s Porphyrias Consortium.
ENVISION was a randomized, double-blind, placebo-controlled trial conducted in more than 20 countries and was designed to evaluate the efficacy and safety of givosiran in 94 patients with a documented diagnosis of AHPs. Patients were randomized on a 1:1 basis to receive 2.5 mg/kg of givosiran or placebo subcutaneously administered monthly, over a 6-month treatment period. Results demonstrated a 74% mean and 90% median reduction in the primary endpoint measure of annualized rate of composite attacks in patients on givosiran relative to placebo during the six-month double-blind period. Dr. Balwani and colleagues presented results from the ENVISION study at the European Association for the Study of the Liver (EASL) International Liver Congress in April of 2019.