Ruxolitinib in Aicardi-Goutières syndrome

• Published in: Metabolic brain disease 2021-06, Vol.36 (5), p.859-863
• Main Authors: Mura, Eleonora, Masnada, Silvia, Antonello, Clara, Parazzini, Cecilia, Izzo, Giana, Garau, Jessica, Sproviero, Daisy, Cereda, Cristina, Orcesi, Simona, Veggiotti, Pierangelo, Zuccotti, Gianvincenzo, Dilillo, Dario, Penagini, Francesca, Tonduti, Davide
• Format: Article
• Language: English
• Subjects: Age; Atrophy; Autoimmune Diseases of the Nervous System - diagnostic imaging; Autoimmune Diseases of the Nervous System - drug therapy; Biochemistry; Biomedical and Life Sciences; Biomedicine; Brain - diagnostic imaging; Calcification; Clinical trials; Cytokines; Diagnostic tests; Health services; Humans; Infant; Inflammation; Interferon; Janus kinase; Kinases; Leukodystrophy; Magnetic Resonance Imaging; Male; Metabolic Diseases; Mutation; Nervous System Malformations - diagnostic imaging; Nervous System Malformations - drug therapy; Neurology; Neurosciences; Nitriles - therapeutic use; Oncology; Patients; Pediatrics; Pyrazoles - therapeutic use; Pyrimidines - therapeutic use; Rare diseases; Short Communication; Sleep; Treatment Outcome
• ISSN: 0885-7490; 1573-7365; 1573-7365
• DOI: 10.1007/s11011-021-00716-5

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 two 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 option for selected interferonopathies. Here we reported the 24 months follow-up of the fifth AGS patient treated with ruxolitinib described so far in literature. The treatment was globally well tolerated; clinical examinations and radiological images demonstrated a progressively improving course. It is however to note that patients presenting with mild and spontaneously improving course have been reported. Large natural history studies on AGS spectrum are strongly required in order to get a better understanding of the results emerging from ongoing therapeutic trials on such rare disease.