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      Estimation Of The Quality Of Life Benefits Associated With Treatment For Spinal Muscular Atrophy

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          Abstract

          Background

          Spinal muscular atrophy (SMA) is a rare, genetic, progressive neuromuscular disorder characterized by severe muscle atrophy and weakness and is a leading genetic cause of death in infants and children. Nusinersen was the first treatment targeting the underlying cause of disease approved by the FDA, EMA and other countries for patients with SMA. There are currently very limited data available on the health-related quality of life (HRQoL) burden of SMA suitable for use in a cost-effectiveness analysis.

          Objective

          This study was designed to estimate quality of life weights or utilities for different SMA states.

          Methods

          SMA case studies were developed describing Type I (infantile onset) and Type II (later-onset) patients and different outcomes from treatment. These were developed so that quality of life weights or utilities (where the value of health ranges from 1 – full health to 0 – dead) could be estimated for cost-effectiveness analysis. Clinical experts (n=5) rated each of the case studies using standardized HRQoL instruments – the EQ-5D-Y and PedsQL-NMM (baseline states only).

          Results

          The SMA Type I utilities ranged from −0.33 (requires ventilation) to 0.71 (Type I patient reclassified as Type III following treatment), with quite substantial differences between some states. Most Type I states had a utility score below zero indicating the severity of the states. The SMA Type II utilities ranged from −0.13 (worsened) to 0.72 (stands/walks unaided). In general, the results showed HRQoL improved in line with better health states.

          Conclusion

          The utility scores obtained in this study highlight the very substantial burden experienced by SMA patients. Despite the limitations in the methods used, this study produced data with face validity and is a useful starting point for understanding the burden of SMA Types I and II in cost-effectiveness analysis.

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          Most cited references18

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          Spinal muscular atrophy

          Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. Estimated incidence is 1 in 6,000 to 1 in 10,000 live births and carrier frequency of 1/40-1/60. This disease is characterized by generalized muscle weakness and atrophy predominating in proximal limb muscles, and phenotype is classified into four grades of severity (SMA I, SMAII, SMAIII, SMA IV) based on age of onset and motor function achieved. This disease is caused by homozygous mutations of the survival motor neuron 1 (SMN1) gene, and the diagnostic test demonstrates in most patients the homozygous deletion of the SMN1 gene, generally showing the absence of SMN1 exon 7. The test achieves up to 95% sensitivity and nearly 100% specificity. Differential diagnosis should be considered with other neuromuscular disorders which are not associated with increased CK manifesting as infantile hypotonia or as limb girdle weakness starting later in life. Considering the high carrier frequency, carrier testing is requested by siblings of patients or of parents of SMA children and are aimed at gaining information that may help with reproductive planning. Individuals at risk should be tested first and, in case of testing positive, the partner should be then analyzed. It is recommended that in case of a request on carrier testing on siblings of an affected SMA infant, a detailed neurological examination should be done and consideration given doing the direct test to exclude SMA. Prenatal diagnosis should be offered to couples who have previously had a child affected with SMA (recurrence risk 25%). The role of follow-up coordination has to be managed by an expert in neuromuscular disorders and in SMA who is able to plan a multidisciplinary intervention that includes pulmonary, gastroenterology/nutrition, and orthopedic care. Prognosis depends on the phenotypic severity going from high mortality within the first year for SMA type 1 to no mortality for the chronic and later onset forms.
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            An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients.

            To develop and evaluate an expanded version of the Hammersmith Functional Motor Scale allowing for evaluation of ambulatory SMA patients.
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              Quality of life: patients and doctors don't always agree: a meta-analysis.

              In addition to traditional clinical markers, quality-of-life assessment can be helpful to estimate the well-being of patients. Discrepancies in perception of well-being between physicians and patients may interfere with the effectiveness of treatment. A systematic review and meta-analysis were performed to explore the (dis-)agreement in quality-of-life assessments between patients and physicians. Data on the proportion agreement of paired observations were collected from Medline, Embase, Psychlit, and Social Abstracts. Of the 1,316 articles found, six met the selection criteria, four studied the proportion agreement between children and physicians, and all six the proportion agreement between parents and physicians. None examined the magnitude of over- or underestimation by physicians. The agreement was lower in the more subjective domains (0.54-0.77) in comparison to the more objective domains (0.79-0.94). Quality-of-life assessment should be integrated in clinical practice. During long-term treatment the perception of the patients' well-being by physicians and patients themselves can easily diverge from each other, resulting in misunderstandings about the treatment and its usefulness in relation to perceived quality of life, and may even become the base for noncompliance.
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                Author and article information

                Journal
                Clinicoecon Outcomes Res
                Clinicoecon Outcomes Res
                CEOR
                ceor
                ClinicoEconomics and Outcomes Research: CEOR
                Dove
                1178-6981
                25 October 2019
                2019
                : 11
                : 615-622
                Affiliations
                [1 ]Acaster Lloyd Consulting Ltd ., London, UK
                [2 ]Value and Access, Biogen , Baar, Switzerland
                [3 ]Value and Access, Biogen , Cambridge, MA, USA
                Author notes
                Correspondence: Andrew J Lloyd Acaster Lloyd Consulting Ltd ., 16 Upper Woburn Place, LondonWC1H0BS, UKTel +44 20 3978 1681 Email andrew.lloyd@acasterlloyd.com
                Author information
                http://orcid.org/0000-0002-7597-6556
                Article
                214084
                10.2147/CEOR.S214084
                6818531
                31749625
                bae97001-fc2b-459f-8a21-7d73a69b3725
                © 2019 Lloyd et al.

                This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License ( http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms ( https://www.dovepress.com/terms.php).

                History
                : 01 May 2019
                : 03 September 2019
                Page count
                Figures: 2, Tables: 2, References: 34, Pages: 8
                Funding
                Funded by: Acaster Lloyd Consulting Ltd
                Biogen sponsored this research project which was conducted by Acaster Lloyd Consulting Ltd, an independent research consultancy. Biogen were involved in the study design and development of the manuscript.
                Categories
                Original Research

                Economics of health & social care
                spinal muscular atrophy,health-related quality of life,utility,eq-5d,cost-effectiveness analysis

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