Joaquim Tavora

Researchers are evaluating the long-term safety, tolerability, pharmacokinetics, biomarkers, and clinical effects of daily Nizubaglustat AZ-3102 in patients with GM2 gangliosidosis or Niemann-Pick Type C NPC disease. This open-label Phase 2 study includes two groups patients continuing from a prior trial RAINBOW and NPC patients transitioning from Miglustat treatment due to stable or worsening disease. The study aims to observe how Nizubaglustat affects these conditions over time and assess its impact after switching from Miglustat. Participants receive daily oral doses of Nizubaglustat through dispersible tablets. Cohort 1 consists of patients continuing from the previous Phase 2 study, while Cohort 2 includes NPC patients aged 12 or older who have been on full-dose Miglustat for at least 12 months and now switch to Nizubaglustat. The treatment period extends up to four years, with regular monitoring and assessments during this time. Throughout the study, participants undergo evaluations including safety checks for adverse events, electrocardiograms, seizure monitoring, and pharmacokinetic sampling at baseline, month 1 for Cohort 2, and month 6. Researchers also measure disease-related biomarkers such as Glucosylceramide, Neurofilament light chain, and other specific molecules linked to GM2 gangliosidosis and NPC. The study includes ongoing clinical assessments and safety monitoring over an average of four years to track long-term effects and treatment tolerability.