TY - JOUR
T1 - Ruxolitinib in Aicardi-Goutières syndrome
AU - Mura, Eleonora
AU - Masnada, Silvia
AU - Antonello, Clara
AU - Parazzini, Cecilia
AU - Izzo, Giana
AU - Garau, Jessica
AU - Sproviero, Daisy
AU - Cereda, Cristina
AU - Orcesi, Simona
AU - Veggiotti, Pierangelo
AU - Zuccotti, Gianvincenzo
AU - Dilillo, Dario
AU - Penagini, Francesca
AU - Tonduti, Davide
PY - 2021/6
Y1 - 2021/6
N2 - 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.
AB - 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.
U2 - 10.1007/s11011-021-00716-5
DO - 10.1007/s11011-021-00716-5
M3 - Article
C2 - 33721182
VL - 36
SP - 859
EP - 863
JO - Metabolic Brain Disease
JF - Metabolic Brain Disease
SN - 0885-7490
IS - 5
ER -