Joaquim Tavora

This research aims to gather long-term data on the safety, tolerability, pharmacokinetics, biomarkers, and clinical effects of daily Nizubaglustat in patients with GM2 gangliosidosis or Niemann-Pick Type C (NPC) disease. The study focuses on two groups: patients who previously participated in the Phase 2 RAINBOW study continuing treatment with Nizubaglustat, and NPC patients aged 12 years or older who have been on stable, full-dose Miglustat for over a year but have stable or worsening disease and want to switch to Nizubaglustat. Participants receive daily oral doses of Nizubaglustat (AZ-3102) dispersible tablets. The study includes two cohorts: Cohort 1 continues from the prior Phase 2 study, while Cohort 2 involves transitioning eligible NPC patients from Miglustat to Nizubaglustat. This open-label study is conducted at multiple centers and monitors patients over an extended period. During the study, participants undergo assessments including monitoring of treatment-emergent adverse events, electrocardiograms, seizure frequency, and detailed blood tests to measure drug levels. These evaluations occur from baseline through an average of 4 years. Researchers aim to understand the long-term safety, tolerability, and clinical impact of Nizubaglustat in these patient groups.