Treatment response to Janus kinase inhibitor in a child affected by Aicardi-Goutières syndrome

Jessica Galli; Marco Cattalini; Erika Loi; Rosalba Monica Ferraro; Silvia Giliani; Simona Orcesi; Lorenzo Pinelli; Raffaele Badolato; Elisa Fazzi

doi:10.1002/ccr3.7724

Treatment response to Janus kinase inhibitor in a child affected by Aicardi-Goutières syndrome

Clin Case Rep. 2023 Jul 31;11(8):e7724. doi: 10.1002/ccr3.7724. eCollection 2023 Aug.

Authors

Jessica Galli^{1

2}, Marco Cattalini^{1

3}, Erika Loi¹, Rosalba Monica Ferraro^{4

5}, Silvia Giliani^{4

5}, Simona Orcesi^{6

7}, Lorenzo Pinelli⁸, Raffaele Badolato^{1

3}, Elisa Fazzi^{1

2}

Affiliations

¹ Department of Clinical and Experimental Sciences University of Brescia Brescia Italy.
² Unit of Child Neurology and Psychiatry ASST Spedali Civili of Brescia Brescia Italy.
³ Pediatrics Clinic ASST Spedali Civili of Brescia Brescia Italy.
⁴ Department of Molecular and Translational Medicine University of Brescia Brescia Italy.
⁵ "Angelo Nocivelli" Institute for Molecular Medicine, ASST Spedali Civili of Brescia Brescia Italy.
⁶ Child Neurology and Psychiatry Unit IRCCS Mondino Foundation Pavia Italy.
⁷ Department of Brain and Behavioral Sciences University of Pavia Pavia Italy.
⁸ Neuroradiology Unit, Section of Pediatric Neuroradiology ASST Spedali Civili of Brescia Brescia Italy.

Abstract

Key clinical message: Baricitinib, a Janus kinase inhibitor (JAK-inhibitor), seems to contribute to an improvement of a child affected by Aicardi-Goutières syndrome (AGS), reducing the interferon score and determining a recovery of cognitive, communicative, and relational dysfunctions, while the gross motor deficit persisted.

Abstract: We report the treatment response to baricitinib, a JAK-inhibitor, in a 4-year-old girl affected by Aicardi-Goutières syndrome (AGS2, RNASEH2B mutation). Using quantitative measures, we detected a significant amelioration characterized by a complete recovery of cognitive, communicative, and relational skills after 8 and 16 months from the beginning of therapy.

Keywords: Aicardi‐Goutières syndrome; JAK‐inhibitors; baricitinib; neurodevelopmental outcome.

Publication types

Case Reports