Introduction There is a need to optimize the current clinical outcome measures in spinal muscular atrophy (SMA) incorporating patients’ and caregivers’ perspectives. The aim of this study is to evaluate the psychometric properties (validity, reliability and sensitivity to change) of a set of existing questionnaires and newly created items grouped in a “toolbox” to assess the impact of SMA on the physical, psychological and activities of daily living domains of the patient’s life. Methods This non-interventional, prospective study will be conducted at 12 neuromuscular clinics specialized in the management of patients with SMA in Spain. An expert panel of pediatric and adult neurologists, rehabilitation physicians, and a patient representative participated in the study design and selected key disease dimensions to explore and their respective measurements: mobility-independence, fatigue and endurance, pain, fatigability, breathing and voice, sleep and rest, and vulnerability. Patients aged 2 years or older with a confirmed diagnosis of 5q-autosomal recessive SMA (genetic confirmation of homozygous deletion or heterozygosity predictive of loss of function of the SMN1 gene) will be recruited. Planned Outcomes The development of robust outcome measures in collaboration with the patient community is essential to determine what is meaningful to patients and their caregivers. This study will provide us with a comprehensive set of tools to better capture the course of the disease and the response to treatments.
Introduction Outcome measures traditionally used in spinal muscular atrophy (SMA) clinical trials are inadequate to assess the full range of disease severity. The aim of this study was to assess the psychometric properties of a set of existing questionnaires and new items, gathering information on the impact of SMA from the patient and caregiver perspectives. Methods This was a multicenter, prospective, noninterventional study including patients with a confirmed diagnosis of 5q-autosomal-recessive SMA aged 8 years and above, or their parents (if aged between 2 and 8 years). The set of outcome measurements included the SMA Independence Scale (SMAIS) patient and caregiver versions, the Neuro-QoL Fatigue Computer Adaptive Test (CAT), the Neuro-QoL Pain Short Form—Pediatric Pain, the PROMIS adult Pain Interference CAT, and new items developed by Fundación Atrofia Muscular España: perceived fatigability, breathing and voice, sleep and rest, and vulnerability. Reliability, construct validity, discriminant validity, and sensitivity to change (4 months from baseline) were measured. Results A total of 113 patients were included (59.3% 2–17 years old, 59.3% male, and 50.4% with SMA type II). Patients required moderate assistance [mean patient and caregiver SMAIS (SD) scores were 31.1 (12.8) and 7.6 (11.1), respectively]. Perceived fatigability was the most impacted domain, followed by vulnerability. Cronbach’s alpha coefficient for perceived fatigability, breathing and voice, and vulnerability total scores were 0.92, 0.88, and 0.85, respectively. The exploratory factor analysis identified the main factors considered in the design, except in the sleep and rest domain. All questionnaires were able to discriminate between the Clinical Global Impression—Severity scores and SMA types. Sensitivity to change was only found for the SMAIS caregiver version and vulnerability items. Conclusions This set of outcome measures showed adequate reliability, construct validity, and discriminant validity and may constitute a valuable option to measure symptom severity in patients with SMA. Supplementary Information The online version contains supplementary material available at 10.1007/s40120-022-00411-2.
Introduction There are many uncertainties about treatment selection and expectations regarding therapeutic goals and benefits in the new landscape of spinal muscular atrophy (SMA). Our aim was to assess treatment preferences and expectations of pediatric neurologists caring for patients with SMA. Methods DECISIONS-SMA is a non-interventional, cross-sectional pilot study that assessed pediatric neurologists with expertise in SMA from across Spain. Participants were presented with 11 simulated case scenarios of common encounters of patients with SMA type 1 and 2 to assess treatment initiation, escalation, or switches. We also asked for the expected benefit with new therapies for four simulated case scenarios. Participants completed a behavioral battery to address their tolerance to uncertainty and aversion to ambiguity. The primary outcome was therapeutic inertia (TI), defined as the number of simulated scenarios with lack of treatment initiation or escalation when warranted over the total (11) presented cases. Results A total of 35 participants completed the study. Participants’ mean (SD) expectation for achieving an improvement by starting a new therapy for SMA type 1 (case 1, a 5-month-old) and SMA type 2 (case 6, a 1-year-old) were both 59.6% (± 21.8), but declined to 20.2% (± 12.2) for a case scenario of a 16-year-old treatment-naïve patient with long-standing SMA type 2 with severe disability. The mean (SD) TI score was 4.2 (1.7), and 3.29 (1.5) for treatment initiation. Of a total 385 individual responses, TI was observed in 147 (38.2%) of treatment choices. The multivariable analysis showed that lower aversion to ambiguity ( p = 0.019) and lower expectation of treatment response ( p = 0.007) were associated with higher TI after adjustment for participants’ age and years of experience. Older age ( p = 0.019), lower years of experience ( p = 0.035), lower aversion to ambiguity ( p = 0.015), and lower expectation of treatment benefits ( p = 0.006) were associated with inertia for treatment initiation. Conclusions Pediatric neurologists managing patients with SMA were optimistic regarding treatment improvement in cases with early diagnosis, but had lower expectations when treatment delays and advanced patient age were present. Low aversion to ambiguity, low expectation of treatment benefits, and lower clinical experience were more likely to make suboptimal decisions, resulting in lack of treatment initiation, escalation, and TI. Supplementary Information The online version contains supplementary material available at 10.1007/s40120-022-00366-4.
Background: Status quo (SQ) bias is defined as patient´s tendency to continue taking a previously selected but inferior therapeutic option. Objective: To assess the presence of SQ bias and its associated factors in patients with relapsing-remitting multiple sclerosis (RRMS). Methods: A multicenter, non-interventional study involving 211 patients with RRMS was conducted. Participants answered questions regarding risk preferences and management of simulated MS case-scenarios. The SymptoMScreen (SMSS) questionnaire was used to assess the perception of severity from the patients´perspective. SQ bias was defined as patients' preference to maintain the current treatment despite evidence of disease activity. Mixed linear models adjusting for clustering assessed the association of candidate predictors with the outcome of interest. Results: The mean age (SD) was 39.1 (9.5) years and 70.6% were women. SQ bias was observed in 74.4% (n=161) participants. Univariate analysis showed that SMSS score was associated with SQ bias (OR 1.04; 95% CI 1.01-1.07). Mixed linear regression models suggest that for every point increase in SMSS, there was a 4% increase in the likelihood of SQ bias (β 0.04; 95%CI 0.015-0.06; p<0.002). Among the different symptomatic dimensions included in the SMSS, only vision impairment (β 0.32; 95%CI 0.05-0.50) and depression (β 0.29; 95%CI 0.006-0.58) remained associated with SQ bias in the multivariate analysis. There was no association between participants' risk preferences and SQ bias. Conclusions: Unwillingness to pursue treatments that are more effective is a common phenomenon affecting over 7 out of 10 patients with RRMS. This phenomenon appears to be driven by patients' negative self-perception of their clinical status.Multiple sclerosis (MS) is a chronic autoimmune neurological disorder with a negative impact on patients, their families, and society (Kobelt et al., 2017;García-Domínguez et al., 2019). In recent years, the approval of several new disease modifying therapies (DMT) with different efficacy-risk profiles has added more complexity to the clinical management of MS (Montalban et al., 2018;Saposnik and Montalban, 2018). In this context, there has been a growing interest in patient's views under the paradigm of patient-centered outcomes (Khurana et al., 2017; D´Amico et al., 2019). Establishing treatment goals together with patients is still an unmet need (Yeandle et al., 2018;Day et al., 2018). Shared decision-making emerged as a potential solution, but is hindered by multiple factors, such as physician-patient communication, knowledge gaps regarding therapeutic alternatives, or subjective patient factors not shared with their MS specialists (O´Conor et al., 2007;Kachuck et al., 2011).Therapeutic inertia (TI) is defined as physicians' lack of treatment
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