Ruxolitinib in Aicardi-Goutières syndrome

• DOI: 10.1007/s11011-021-00716-5
• Publication Date: 2021-03-15T09:05:01Z
• Authors: Eleonora Mura; Silvia Masnada; Clara Antonello; Cecilia Parazzini; Giana Izzo; Jessica Garau; Daisy Sproviero; Cristina Cereda; Simona Orcesi; Pierangelo Veggiotti; Gianvincenzo Zucc...; Dario Dilillo; Francesca Penagini; Davide Tonduti
• Keywords: Ruxolitinib

Abstract Aicardi Goutières Syndrome (AGS) is a monogenic leukodystrophy with pediatric onset, clinically characterized by a variable degree of neurologic impairment. It belongs to a group of condition called type I interferonopathies that are characterized by abnormal overproduction of interferon alpha, an inflammatory cytokine which action is mediated by the activation of 2 of the four human Janus Kinases. Thanks to an ever-increasing knowledge of the molecular basis and pathogenetic mechanisms of the disease, Janus Kinase inhibitors (JAKIs) have been proposed as a treatment for interferonopathies. We described the 24 months follow-up of the fifth AGS patient treated with ruxolitinib. Treatment was globally well tolerated; clinical and radiological picture demonstrated a progressively improving course. It is however to note that patients presenting mild and spontaneously improving picture have been reported. Large natural history studies on AGS spectrum are urgently needed in order to help the interpretation of the results of therapeutic trials.