&lt;p&gt;Estimation Of The Quality Of Life Benefits Associated With Treatment For Spinal Muscular Atrophy&lt;/p&gt;

Lloyd, Andrew; Thompson, Robin; Gallop, Katy; Teynor, Megan

doi:10.2147/ceor.s214084

Cited by 22 publications

(46 citation statements)

References 28 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Cure SMA will conduct follow up annual surveys using the WPAI and HUI instruments to evaluate the impact that new therapies are making on the overall experience of affected individuals and their families. It is anticipated that these future survey activities will also add in other HRQoL measurements (including the EQ-5D [34] and the Fatigue Impact Scale [35]) to broaden the picture of SMA impact among the community, evaluate which tools are most sensitive to each subtype of the diverse SMA population, can assess treatment affects and determine the health utility among a large sample of affected individuals with SMA.…”

Section: Discussionmentioning

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

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

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

View full text Add to dashboard Cite

show abstract

“…A major limitation of the study was the absence of blinding to the intervention, which, although documented in previous studies [ 31 , 32 ], has the potential to introduce bias when completing questionnaires based on vignette content. As described above, wording used in the vignettes differed between those describing patients receiving cerliponase alfa and those describing untreated patients, as there was a need to accurately convey the nature of administration of cerliponase alfa (surgical implantation of ventricular reservoir under the scalp) in the vignettes due to the impact it would likely have on patients’ HRQoL (Supplementary Information 1).…”

Section: Discussionmentioning

confidence: 99%

“…In the literature, there does not appear to be a consistent method for the development and validation of vignettes, however the input of multiple clinicians and/or patient groups is frequently used [ 31 , 32 , 52 ]. In line with this, validation of the vignettes in this study was conducted by an expert clinician and patient organisation.…”

Section: Discussionmentioning

confidence: 99%

Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)

Gissen¹,

Specchio

Olaye

et al. 2021

Orphanet J Rare Dis

View full text Add to dashboard Cite

Background Utility studies enable preference-based quantification of a disease’s impact on patients’ health-related quality of life (HRQoL). It is often difficult to obtain utility values for rare, neurodegenerative conditions due to cognitive burden of direct elicitation methods, and the limited size of patient/caregiver populations. CLN2 disease (neuronal ceroid lipofuscinosis type 2) is an ultra-rare, progressive condition, for which there are no published utility data fully capturing all disease stages. This case study demonstrates how utility values can be estimated for ultra-rare paediatric diseases by asking clinicians to complete EQ-5D-5L questionnaires based on vignettes describing the stages of CLN2 disease. Methods An indirect elicitation method using proxy-reporting by clinical experts was adopted. Eighteen vignettes were developed, describing nine progressive disease stages as defined by motor and language domain scores of the CLN2 Clinical Rating Scale, in individuals treated with cerliponase alfa or standard care. Eight clinical experts with experience of treating CLN2 disease with cerliponase alfa and current standard care completed the proxy version 2 EQ-5D-5L online after reading these vignettes. Resulting scores were converted to EQ-5D-5L utility values for each disease stage, using UK, German and Spanish value sets. Results Utility values, which are typically anchored by 0 (equivalent to death) and 1 (full health), decreased with CLN2 disease progression (results spanned the maximum range of the utility scale). Assigned utility values were consistently higher for patients receiving cerliponase alfa than standard care; differences were statistically significant for the 6 most severe disease stages (p < 0.05). Analysis of the individual dimensions of the EQ-5D-5L showed that greatest differences between patients treated with cerliponase alfa and standard care occurred in the pain dimension (differences in mean scores ranged between no difference and 1.8), with notable differences also observed in the anxiety/depression dimension (differences in mean scores ranged between 0.1 and 1.0). Conclusions This study demonstrates a feasible methodology for eliciting utility values in CLN2 disease, indicating HRQoL declines with disease progression. Vignettes describing patients receiving cerliponase alfa were consistently assigned higher utility values for the same disease state, suggesting this treatment improves HRQoL compared with standard care. Trial registration NCT01907087, NCT02485899.

show abstract

“…In the absence of a relevant generic preference-based instrument that spans the childhood years, we could recommend the use of ‘vignette studies’, which involve direct elicitation of health states described as vignettes using techniques such as SG or TTO with the general public, parents, or caregivers. The approach of ‘vignettes’ was used in the context of the evaluation of gene replacement therapies for SMA and for PE65-mediated inherited retinal disease, although in both cases the vignettes were value by clinical experts [ 52 , 53 ]. It is important to minimise investigator bias in the development of vignettes and we would suggest considering guidance on the development of patient-reported outcomes (PRO) instruments for that purpose [ 54 – 56 ].…”

Section: Valuation Of Health Outcomesmentioning

confidence: 99%

Health economic evaluation of gene replacement therapies: methodological issues and recommendations

Aballéa¹,

Thokagevistk

Velikanova

et al. 2020

Journal of Market Access & Health Policy

View full text Add to dashboard Cite

Objective : To provide recommendations for addressing previously identified key challenges in health economic evaluations of Gene Replacement Therapies (GRTs), including: 1) the assessment of clinical effectiveness; 2) the valuation of health outcomes; 3) the time horizon and extrapolation of effects beyond trial duration; 4) the estimation of costs; 5) the selection of appropriate discount rates; 6) the incorporation of broader elements of value; and 7) affordability. Methods : A literature review on economic evaluations of GRT was performed. Interviews were conducted with 8 European and US health economic experts with experience in evaluations of GRT. Targeted literature reviews were conducted to investigate further potential solutions to specific challenges. Recommendations : Experts agreed on factors to be considered to ensure the acceptability of historical cohorts by HTA bodies. Existing prospective registries or, if not available, retrospective registries, may be used to analyse different disease trajectories and inform extrapolations. The importance of expert opinion due to limited data was acknowledged. Expert opinion should be obtained using structured elicitation techniques. Broader elements of value, beyond health gains directly related to treatment, can be considered through the application of a factor to inflate the quality-adjusted life years (QALYs) or a higher cost-effectiveness threshold. Additionally, the use of cost-benefit analysis and saved young life equivalents (SAVE) were proposed as alternatives to QALYs for the valuations of outcomes of GRT as they can incorporate broader elements of value and avoid problems of eliciting utilities for paediatric diseases. Conclusions : While some of the limitations of economic evaluations of GRT are inherent to limited clinical data and lack of experience with these treatments, others may be addressed by methodological research to be conducted by health economists.

show abstract

<p>Estimation Of The Quality Of Life Benefits Associated With Treatment For Spinal Muscular Atrophy</p>

Cited by 22 publications

References 28 publications

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

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

Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)

Health economic evaluation of gene replacement therapies: methodological issues and recommendations

Contact Info

Product

Resources

About