Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison - PubMed
4 hours ago
- #interferonopathies
- #JAK inhibitors
- #Aicardi-Goutières syndrome
- The study evaluates the efficacy of JAK1/2 inhibitors (Baricitinib or Ruxolitinib) in Aicardi-Goutières syndrome (AGS) and related interferonopathies.
- 12 treated patients were compared with 20 untreated patients, showing improvements in immunological and dermatological symptoms but limited impact on neurological manifestations.
- Greater benefits were observed in patients with mild or intermediate phenotypes and earlier treatment initiation.
- Neuroradiological improvements in untreated patients were equal to or greater than those in treated patients, questioning the true impact of JAK1/2 inhibitors on neuroradiological outcomes.
- Adverse events were rare and mild, confirming the favorable safety profile of JAK1/2 inhibitors.
- The study suggests that the pathogenetic complexity of AGS extends beyond the JAK-STAT pathway, indicating the need for larger prospective studies to refine treatment strategies.