Two preliminary studies were published simultaneously in the New England Journal of Medicine, both aimed at reducing superoxide dismutase 1 (SOD1) protein levels in people who had amyotrophic lateral sclerosis (ALS) due to SOD1 mutations.
In the first study, a phase I/II trial of intrathecal tofersen, Timothy Miller, MD, PhD, of Washington University in St. Louis, and coauthors treated 48 patients with SOD1-ALS in ascending doses of 20, 40, 60, and 100 mg. Tofersen, an investigational antisense oligonucleotide, binds to SOD1 mRNA, enhancing its degradation and reducing levels of toxic mutant SOD1 protein.