Anatomy and Neuroscience - Research Publications

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    Patient Preferences for Time and Location of Infusible Therapies in Multiple Sclerosis and Neuroimmunologic Disorders.
    Rath, L ; Campagna, MP ; Stankovich, J ; Ellis, J ; Jokubaitis, V ; McCarthy, D ; Nesbitt, C ; Yeh, WZ ; Zhong, M ; Wesselingh, R ; Monif, M ; Richards, J ; Minh, VB ; Skibina, O ; Butzkueven, H ; van der Walt, A (Consortium of Multiple Sclerosis Centers, 2021)
    BACKGROUND: People with multiple sclerosis and neuroimmunologic disorders (herein referred to as patients) are increasingly treated with infusible monoclonal antibodies. This rise in demand has placed increased loads on current infusion services and mandates careful strategic planning. This study examined patient preferences for the timing and location of infusions and their association with demographic and disease variables to facilitate patient-focused strategic planning. METHODS: Ninety-one patients receiving an infusible therapy at an infusion service during March 2019 were asked to complete a questionnaire exploring eight domains, including preferences for time of infusions and location of infusion centers. Potential access to home-based treatment was included as an option. Unstructured (free-text) feedback on current service was also obtained. RESULTS: Eighty-three patients completed the survey (mean age, 42 years; 75% women). Infusions were predominantly natalizumab (66%) and ocrelizumab (25%). Of these patients, 71% were engaged in some form of work or study, and 83% of this group had to arrange time off from work or study to attend treatment. Seventy percent of patients would prefer their infusion before noon, and 60% would consider home-based infusions. Most used a car as their transport to the infusion service. CONCLUSIONS: These results suggest that patients are more likely to prefer infusible treatment in the morning and are open to home-based infusions. This study provides information for health services to target service delivery at peak preference times and consider alternate ways of delivering infusible treatments.
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    Multiple sclerosis risk variants regulate gene expression in innate and adaptive immune cells
    Gresle, MM ; Jordan, MA ; Stankovich, J ; Spelman, T ; Johnson, LJ ; Laverick, L ; Hamlett, A ; Smith, LD ; Jokubaitis, VG ; Baker, J ; Haartsen, J ; Taylor, B ; Charlesworth, J ; Bahlo, M ; Speed, TP ; Brown, MA ; Field, J ; Baxter, AG ; Butzkueven, H (LIFE SCIENCE ALLIANCE LLC, 2020-07)
    At least 200 single-nucleotide polymorphisms (SNPs) are associated with multiple sclerosis (MS) risk. A key function that could mediate SNP-encoded MS risk is their regulatory effects on gene expression. We performed microarrays using RNA extracted from purified immune cell types from 73 untreated MS cases and 97 healthy controls and then performed Cis expression quantitative trait loci mapping studies using additive linear models. We describe MS risk expression quantitative trait loci associations for 129 distinct genes. By extending these models to include an interaction term between genotype and phenotype, we identify MS risk SNPs with opposing effects on gene expression in cases compared with controls, namely, rs2256814 MYT1 in CD4 cells (q = 0.05) and rs12087340 RF00136 in monocyte cells (q = 0.04). The rs703842 SNP was also associated with a differential effect size on the expression of the METTL21B gene in CD8 cells of MS cases relative to controls (q = 0.03). Our study provides a detailed map of MS risk loci that function by regulating gene expression in cell types relevant to MS.