Hereditary transthyretin (TTR) amyloidosis (hATTR) is a devastating, progressive and ultimately fatal genetic disease with limited treatment options. Inotersen is a second generation antisense oligonucleotide blocking the production of wild and mutant TTR from the liver, developed by Ionis Pharmaceuticals for the treatment of hATTR amyloidosis in patients with polyneuropathy (hATTR-PN). Dr. Teresa Coelho at the annual meeting of the Peripheral Nerve Society on July 9, 2017, presented the results of a recently completed pivotal Phase 3 double blind randomized study of inotersen in hATTR-PN patients. The results were stunningly positive as both primary outcome measures, the composite score mNIS+7 and the Norfolk Quality of Life Questionnaire, showed highly significant differences between both treatment arms. Thrombocytopenia and renal dysfunction were identified as key safety findings in the study, which promoted more frequent monitoring to avoid significant safety issues, and enhanced monitoring appears to be effective. This appears to be an important breakthrough in the treatment of a lethal disorder.
| Neuropathies | Coordinating Panel on Rare Neurological Diseases