JAK Inhibitor Treatment in AGS

Aicardi Goutieres Syndrome Clinical Trial

Official title: Janus Kinase Inhibitor (Baricitinib) for Aicardi Goutières Syndrome

Status Completed

Clinical Trial Summary

The primary objective of this study is to assess safety as well as efficacy of baricitinib, a Janus Kinase (JAK) inhibitor, in patients with Aicardi Goutières Syndrome (AGS), a multisystem heritable disorder of the innate immunity resulting in excessive interferon production

Clinical Trial Description

Aicardi Goutières Syndrome (AGS) is a multisystem heritable disorder of the innate immunity resulting in excessive interferon production. Most characteristically, AGS manifests as an early-onset encephalopathy that results in severe intellectual and physical handicap. Interferon is thought to cause injury not only to the brain, but also the skin, liver, lungs, heart and many other organs. Treatment with Janus Kinase (JAK) inhibitors offers the promise of decreasing interferon signaling and limiting the morbidity of this devastating disorder.

The primary objective is to determine if the administration of baricitinib to patients with AGS results in an improvement or stability of the AGS scale at baseline at 52 weeks.

Secondary objectives will include longitudinal stability of safety measures, improvement of interferon signaling scores, improvement of GMFM-88 and functional measures of neurologic disability, and improvement of a daily disease severity scale, for the duration of the treatment period. ;

Related Conditions & MeSH terms

• Aicardi Goutieres Syndrome
• Autoimmune Diseases of the Nervous System
• Nervous System Malformations
• Syndrome

• NCT number: NCT03921554
• Study type: Interventional
• Source: Children's Hospital of Philadelphia
• Status: Completed
• Phase: Phase 2
• Start date: June 3, 2019
• Completion date: March 25, 2024