A critical review of patient and parent caregiver oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in spinal muscular atrophy

Messina, Sonia; Frongia, A.; Antonaci, Laura; Pera, Maria Carmela; Coratti, Giorgia; Pane, Marika; Pasternak, Amy; Civitello, Matthew; Montes, Jacqueline; Finkel, Richard S.; Muntoni, Francesco; Mercuri, E.

doi:10.1016/j.nmd.2019.10.001

Cited by 27 publications

(24 citation statements)

References 81 publications

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“…On the contrary, a US study demonstrated an incremental cost-effectiveness ratio (ICER), expressed as cost/quality-adjusted life year ($/QALY), of $46,947 for chronic treatment with nusinersen and of $31,379 base case at a price of $5M for onasemnogene abeparvosec, indicating that the latter was cost-effective with prices of ≤$5M [ 92 ]. Several international disease-specific registries have now been established (e.g., the International SMA Consortium Spinal Muscular Atrophy Patient Registry (iSMAC), the TREAT-NMD registry and the SMArtCARE project), collecting “real-world data” on treated and untreated SMA patients with standardized outcome measures, including patient-oriented tools on a longitudinal setting [ 93 , 94 , 95 , 96 , 97 , 98 ].…”

Section: Discussionmentioning

confidence: 99%

New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges

Messina

Sframeli

2020

JCM

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117

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Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases with progressive weakness of skeletal and respiratory muscles, leading to significant disability. The disorder is caused by mutations in the survival motor neuron 1 (SMN1) gene and a consequent decrease in the SMN protein leading to lower motor neuron degeneration. Recently, Food and Drug Administration (FDA) and European Medical Agency (EMA) approved the antisense oligonucleotide nusinersen, the first SMA disease-modifying treatment and gene replacement therapy by onasemnogene abeparvovec. Encouraging results from phase II and III clinical trials have raised hope that other therapeutic options will enter soon in clinical practice. However, the availability of effective approaches has raised up ethical, medical and financial issues that are routinely faced by the SMA community. This review covers the available data and the new challenges of SMA therapeutic strategies.

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Section: Discussionmentioning

confidence: 99%

New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges

Messina

Sframeli

2020

JCM

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117

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“…The WPAI is a six-question survey assessing the effect of a problem on an individual’s ability to work and perform regular activities with the prior 7 days. The WPAI has been validated for use in a variety of disease states and has been used in SMA clinical trials [ 28 ] but not validated in an SMA population. The assessment tool yields scores on work time missed (absenteeism), impaired productivity at work (presenteeism), overall work productivity loss (absenteeism and presenteeism combined) and impairment in non-work-related activities due to health problems (activity impairment).…”

Section: Methodsmentioning

confidence: 99%

Quality of life data for individuals affected by spinal muscular atrophy: a baseline dataset from the Cure SMA Community Update Survey

Belter

Cruz

Jarecki

2020

Orphanet J Rare Dis

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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 posttreatment 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 SMAspecific quality of life outcome measures to fully capture clinically meaningful change in the SMA population.

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“…The systematic assessment of patient perspectives has the capacity to provide invaluable clinical information that could otherwise be lost when relying on clinical evaluation alone [ 25 ]. Messina et al identified 36 instruments currently used in clinical trials to evaluate the impact of SMA on quality of life, activities of daily living, and caregiver burden [ 26 ]. Only ten included a combination of items exploring all these dimensions, and only six were specifically developed for SMA.…”

Section: Discussionmentioning

confidence: 99%

“…Consequently, there is a need to supplement the current clinical outcome measures in SMA incorporating patients’ and parent caregivers’ preferences and meaningful outcomes, especially on activities of daily living domains. Regulatory agencies, scientific societies and advocacy groups have been working to improve understanding, measurement and incorporation of the perspectives and priorities of patients with SMA and their caregivers in therapy development, regulatory review processes and clinical practice [ 15 , 16 , 26 ].…”

Section: Discussionmentioning

confidence: 99%

Design of a Non-Interventional Study to Validate a Set of Patient- and Caregiver-Oriented Measurements to Assess Health Outcomes in Spinal Muscular Atrophy (SMA-TOOL Study)

et al. 2021

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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.

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A critical review of patient and parent caregiver oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in spinal muscular atrophy

Cited by 27 publications

References 81 publications

New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges

New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges

Quality of life data for individuals affected by spinal muscular atrophy: a baseline dataset from the Cure SMA Community Update Survey

Design of a Non-Interventional Study to Validate a Set of Patient- and Caregiver-Oriented Measurements to Assess Health Outcomes in Spinal Muscular Atrophy (SMA-TOOL Study)

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