The Neuro is advancing research into rare genetic disorders with a groundbreaking clinical trial for Spinocerebellar Ataxia Type 2 (SCA2), marking Canada’s first RNA-based therapy for the disease. This experimental treatment aims to silence the faulty ataxin-2 gene, potentially slowing or even reversing the progression of this fatal neurological condition, which is disproportionately common in Quebec.

SCA2 is caused by a mutation that leads to toxic protein buildup in nerve cells, impairing movement, coordination, and other vital functions. The trial at The Neuro will test a small interfering RNA (siRNA) therapy designed to lower ataxin-2 levels, targeting the disease at its genetic source.

Dr. Massimo Pandolfo, a leading ataxia researcher and Medical Director of the Clinical Research Unit at The Neuro, explains that if successful, this therapy could improve symptoms such as gait and coordination. The Neuro is one of three Canadian sites participating in this international Phase 1 study, which will assess safety, dosage, and potential effects, with all participants having the opportunity to access the treatment at the trial’s conclusion.

Source: https://healthenews.mcgill.ca/first-in-canada-rna-trial-for-rare-ataxia-launches-at-the-neuro/