Targeted therapeutic benefits of anakinra for sleep, gastrointestinal, and behavioral symptoms in Sanfilippo syndrome: a post hoc analysis in symptom-specific subgroups

Sanfilippo syndrome is a lysosomal storage disease marked by severe neurodegeneration along with neurobehavioral problems and functional impairments including sleeping disturbances and gastrointestinal symptoms. Due to the neuroinflammatory aspect of the disease, we conducted a phase I/II open-label study of anakinra, an IL-1 receptor antagonist, in Sanfilippo syndrome (N=23). This post-hoc pragmatic analysis focuses specifically on 1) changes in the Child Sleep Habits Questionnaire (CSHQ) and Sanfilippo Stool Habit Questionnaire (SSHQ) among participants with sleep disturbance or diarrhea present on Day 1; 2) the Sanfilippo Behavior Rating Scale (SBRS) mood/anger/aggression cluster scores among participants with diagnosed agitation/aggression/disruptive behavior disorder, taken from medical history at screening; and 3) whether disease severity measured by the Vineland Adaptive Behavior Scales-3 (VABS-3) adaptive behavior composite (ABC) score is associated with response to treatment.