Outcome measures in a cohort of ambulatory adults with spinal muscular atrophy

2019 ◽  
Vol 61 (2) ◽  
pp. 187-191 ◽  
Author(s):  
Bakri Elsheikh ◽  
Wendy King ◽  
Juan Peng ◽  
Kathy J. Swoboda ◽  
Sandra P. Reyna ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Outcome Measures ◽  
Muscular Atrophy

scholarly journals Treatment satisfaction in 5q-spinal muscular atrophy under nusinersen therapy

2021 ◽  
Vol 14 ◽  
pp. 175628642199890 ◽  
Author(s):  
Alma Osmanovic ◽  
Gresa Ranxha ◽  
Mareike Kumpe ◽  
Claudia D. Wurster ◽  
Benjamin Stolte ◽  
...  
Keyword(s):  
Side Effects ◽  
Spinal Muscular Atrophy ◽  
Outcome Measures ◽  
Treatment Satisfaction ◽  
Treatment Duration ◽  
Treatment Effectiveness ◽  
Muscular Atrophy ◽  
Patients Satisfaction ◽  
Motor Outcome ◽  
Ambulatory Patients

Background: Nusinersen was the first approved disease-modifying therapy for all 5q-spinal muscular atrophy (SMA) patients regardless of age or disease severity. Its efficacy in adults has recently been demonstrated in a large cohort by motor outcome measures, which were only partially suitable to detect changes in very mildly or severely affected patients. Patient-reported outcome measures (PROs) have been suggested as a valuable addition. Here, we aimed to assess treatment satisfaction and investigate whether it may be a useful PRO to monitor SMA patients. Methods: We enrolled 91 mainly adult 5q-SMA patients treated with nusinersen in a national, multicenter, cross-sectional observational study. 21 patients underwent longitudinal follow up. Patients’ satisfaction with treatment in four dimensions (global, effectiveness, convenience, side effects) was assessed by the Treatment Satisfaction Questionnaire for Medication German version 1.4 (TSQM-1.4©) and related to clinical parameters, motor scores, and treatment duration. Results: More than 90% of SMA patients were consistently satisfied over a median treatment duration of 10 months. Highest mean scores were observed in the dimensions ‘side effects,’ ‘global satisfaction,’ and ‘effectiveness’ (93.5 ± 14.8 versus 73.1 ± 21.0 and 64.8 ± 20.6, respectively). Patients’ satisfaction with the convenience of treatment was considerably lower (43.6 ± 20.2). Interestingly, satisfaction with the effectiveness was higher in ambulatory ( p = 0.014) compared with non-ambulatory patients and directly correlated to motor outcome measures. Five non-ambulatory patients withdrew from therapy. All of them presented with a deterioration of motor outcome measures and reported dissatisfaction with treatment effectiveness and convenience. Conclusion: Most patients were satisfied with nusinersen treatment effectiveness. Less severely affected patients indicated higher satisfaction. The TSQM-1.4© helped to identify therapy non-responders, who mainly addressed dissatisfaction with effectiveness and convenience. We suggest introducing the TSQM-1.4© as an additional PRO in SMA into clinical practice.

scholarly journals Rasch analysis of clinical outcome measures in spinal muscular atrophy

2013 ◽  
Vol 49 (3) ◽  
pp. 422-430 ◽  
Author(s):  
Stefan J. Cano ◽  
Anna Mayhew ◽  
Allan M. Glanzman ◽  
Kristin J. Krosschell ◽  
Kathryn J. Swoboda ◽  
...  
Keyword(s):  
Clinical Outcome ◽  
Spinal Muscular Atrophy ◽  
Outcome Measures ◽  
Rasch Analysis ◽  
Muscular Atrophy

scholarly journals A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method

2021 ◽  
pp. 1-10
Author(s):  
Jeremy Slayter ◽  
Victoria Hodgkinson ◽  
Josh Lounsberry ◽  
Bernard Brais ◽  
Kristine Chapman ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Outcome Measures ◽  
Delphi Method ◽  
Muscular Atrophy ◽  
Quality Data ◽  
High Quality ◽  
High Quality Data ◽  
Modified Delphi Method ◽  
Modified Delphi ◽  
Disease Modifying

Background: Spinal Muscular Atrophy (SMA) is a rare disease that affects 1 in 11 000 live births. Recent developments in SMA treatments have included new disease-modifying therapies that require high quality data to inform decisions around initiation and continuation of therapy. In Canada, there are no nationally agreed upon outcome measures (OM) used in adult SMA. Standardization of OM is essential to obtain high quality data that is comparable among neuromuscular clinics. Objective: To develop a recommended toolkit and timing of OM for assessment of adults with SMA. Methods: A modified delphi method consisting of 2 virtual voting rounds followed by a virtual conference was utilized with a panel of expert clinicians treating adult SMA across Canada. Results: A consensus-derived toolkit of 8 OM was developed across three domains of function, with an additional 3 optional measures. Optimal assessment frequency is 12 months for most patients regardless of therapeutic access, while patients in their first year of receiving disease-modifying therapy should be assessed more frequently. Conclusions: The implementation of the consensus-derived OM toolkit will improve monitoring and assessment of adult SMA patients, and enrich the quality of real-world evidence. Regular updates to the toolkit must be considered as new evidence becomes available.

scholarly journals Quality of life data for individuals affected by Spinal Muscular Atrophy: A baseline dataset from the Cure SMA Community Update Survey

2020 ◽  
Author(s):  
Lisa Belter ◽  
Rosángel Cruz ◽  
Jill Jarecki
Keyword(s):  
Quality Of Life ◽  
Spinal Muscular Atrophy ◽  
Functional Status ◽  
Outcome Measures ◽  
Muscular Atrophy ◽  
Work Productivity ◽  
Type I ◽  
Activity Impairment ◽  
Patient Reported

Abstract BACKGROUND Individuals and/or caregivers of individuals affected by Spinal Muscular Atrophy (SMA) completed the 2019 Cure SMA Community Update Survey, online, assessing health-related quality of life (HRQoL), loss of work productivity, and fatigue using the Health Utilities Index Questionnaire (HUI), the Work Productivity and Activity Impairment Questionnaire (WPAI), and the Patient Reported Outcomes Measurement Information System Fatigue Short Form (PROMIS Fatigue SF), respectively. The purpose was to collect baseline quality of life results among individuals affected by SMA using the above Patient Reported Outcome Measures (PROMs). RESULTS Of 666 surveys completed between March and May 2019, 478 were included in this analysis, accounting for duplicates, missing data, or deaths. The breakdown across SMA type I, II and III was 25%, 47% and 28%, respectively. Responses were characterized by current functional status/milestone, with subsets for “permanent ventilation,” “non-sitters,” “sitters,” “walk with support,” and “walk alone.” WPAI and HUI respondents included affected adults and caregivers. The PROMIS Fatigue SF was completed by the primary caregiver of affected children. Overall, those affected by a less severe form of SMA and with a higher functional status reported higher HRQoL and lower work productivity and activity impairment. All affected individuals reported higher fatigue levels than the general population. CONCLUSIONS This study offers useful insights into the burden of SMA among affected individuals and their caregivers. The results provide a baseline picture of the patient and caregiver experience with SMA in a post-treatment era from which to measure year-over-year changes in quality of life scores from new therapies and improved care. The WPAI demonstrates the significant impact of work productivity among SMA populations. Aspects of the HUI seem more appropriate to certain SMA sub-populations than others. Measures from the PROMIS Fatigue SF appear to under-represent the burden of fatigue often reported by SMA individuals and caregivers; this may, perhaps be due to a lack of sensitivity in the questions associated with fatigue in the SMA affected population, when compared with other studies on this topic. Overall, these results suggest the need for SMA-specific quality of life outcome measures to fully capture clinically meaningful change in the SMA population.

scholarly journals Quality of life data for individuals affected by Spinal Muscular Atrophy: A baseline dataset from the Cure SMA Community Update Survey

2020 ◽  
Author(s):  
Lisa Belter ◽  
Rosángel Cruz ◽  
Jill Jarecki
Keyword(s):  
Quality Of Life ◽  
Spinal Muscular Atrophy ◽  
Functional Status ◽  
Outcome Measures ◽  
Muscular Atrophy ◽  
Work Productivity ◽  
Type I ◽  
Activity Impairment ◽  
Patient Reported

Abstract BACKGROUND Individuals and/or caregivers of individuals affected by Spinal Muscular Atrophy (SMA) completed the 2019 Cure SMA Community Update Survey, online, assessing health-related quality of life (HRQoL), loss of work productivity, and fatigue using the Health Utilities Index Questionnaire (HUI), the Work Productivity and Activity Impairment Questionnaire (WPAI), and the Patient Reported Outcomes Measurement Information System Fatigue Short Form (PROMIS Fatigue SF), respectively. The purpose was to collect baseline quality of life results among individuals affected by SMA using the above Patient Reported Outcome Measures (PROMs). RESULTS Of 666 surveys completed between March and May 2019, 478 were included in this analysis, accounting for duplicates, missing data, or deaths. The breakdown across SMA type I, II and III was 25%, 47% and 28%, respectively. Responses were characterized by current functional status/milestone, with subsets for “permanent ventilation,” “non-sitters,” “sitters,” “walk with support,” and “walk alone.” WPAI and HUI respondents included affected adults and caregivers. The PROMIS Fatigue SF was completed by the primary caregiver of affected children. Overall, those affected by a less severe form of SMA and with a higher functional status reported higher HRQoL and lower work productivity and activity impairment. All affected individuals reported higher fatigue levels than the general population. CONCLUSIONS This study offers useful insights into the burden of SMA among affected individuals and their caregivers. The results provide a baseline picture of the patient and caregiver experience with SMA in a post-treatment era from which to measure year-over-year changes in quality of life scores from new therapies and improved care. The WPAI demonstrates the significant impact of work productivity among SMA populations. Aspects of the HUI seem more appropriate to certain SMA sub-populations than others. Measures from the PROMIS Fatigue SF appear to under-represent the burden of fatigue often reported by SMA individuals and caregivers; this may, perhaps be due to a lack of sensitivity in the questions associated with fatigue in the SMA affected population, when compared with other studies on this topic. Overall, these results suggest the need for SMA-specific quality of life outcome measures to fully capture clinically meaningful change in the SMA population.

Clinical Outcome Measures in Spinal Muscular Atrophy

2009 ◽  
Vol 24 (8) ◽  
pp. 968-978 ◽  
Author(s):  
Jacqueline Montes ◽  
Andrew M. Gordon ◽  
Shree Pandya ◽  
Darryl C. De Vivo ◽  
Petra Kaufmann
Keyword(s):  
Clinical Outcome ◽  
Spinal Muscular Atrophy ◽  
Outcome Measures ◽  
Muscular Atrophy
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