Spinal Muscular Atrophy: The Use of Functional Motor Scales in the Era of Disease-Modifying Treatment

Pierzchlewicz, Katarzyna; Kępa, Izabela; Podogrodzki, Jacek; Kotulska, Katarzyna

doi:10.1177/2329048x211008725

Cited by 36 publications

(32 citation statements)

References 48 publications

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“…Motor and respiratory function were the primary outcome measures assessed in the studies identified in this SLR. However, meaningful changes to patients with SMA, such as fine finger movements or the ability to turn one's head, may not be captured by current scales for clinical trial endpoints [96]. Patients, caregivers and clinicians have also highlighted that outcome measures should assess aspects of SMA such as the ability to perform daily activities, respiratory function, swallowing, fatigue and endurance [97].…”

Section: Measuring Change That Is Meaningful For Patients In Economic Evaluationsmentioning

confidence: 99%

Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA)

et al. 2021

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Background Spinal muscular atrophy (SMA) is a rare, progressive neuromuscular disease that affects individuals with a broad age range. SMA is typically characterised by symmetrical muscle weakness but is also associated with cardiac defects, life-limiting impairments in respiratory function and bulbar function defects that affect swallowing and speech. Despite the advent of three innovative disease-modifying therapies (DMTs) for SMA, the cost of DMTs in addition to the costs of standard of care can be a barrier to treatment access for patients. Health Technology Assessment (HTA) decision makers evaluate the cost effectiveness of a new treatment before making a reimbursement decision. Objective The primary objective was to conduct a systematic literature review (SLR) to identify the modelling approaches used in economic evaluations that assess current approved treatments in SMA, with a secondary objective to widen the scope and identify economic evaluations assessing other (non-SMA) neuromuscular disorders. Methods An SLR was performed to identify available economic evaluations associated with any type of SMA (Type 1, 2, 3 and/or 4). Economic evaluations associated with other (non-SMA) neuromuscular disorders were identified but not further analysed. Electronic searches were conducted in Embase, MEDLINE, Evidence-Based Medicine Reviews and EconLit via the Ovid platform in August 2019, and were supplemented by searches of the grey literature (reference lists, conference proceedings, global HTA body websites and other relevant sources). Eligibility criteria were based on the population, interventions, comparators and outcomes (PICO) framework. Quality assessment of full publications was conducted with reference to a published checklist. Results Nine publications covering eight unique studies met all eligibility criteria for inclusion in the SLR, including four conference abstracts, two peer-reviewed original research articles and three HTA submissions (conducted in Canada, the US and the UK). Evaluations considered patients with early infantile-onset (most likely to develop Type 1 or Type 2 SMA), lateronset SMA and both infantile-and later-onset SMA. Data for the identified economic models were collected from literature reviews and relatively short-term clinical trials. Several intent-to-treat clinical trial populations were used in the studies, which resulted in variation in cycle length and different outcome measures to determine clinical efficacy. The results of the quality assessment on the five full-text, peer-reviewed publications found that they generally provided clear descriptions of objectives, modelling methods and results. However, key decisions, such as choice of economic evaluation, model type and choice of variables for sensitivity analysis, were often not adequately justified. Conclusions This SLR highlights the need for economic evaluations in SMA to better align in modelling approaches with respect to (i) consistency in model structure and use of motor function milestones as health states; (ii) con...

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Section: Measuring Change That Is Meaningful For Patients In Economic Evaluationsmentioning

confidence: 99%

Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA)

et al. 2021

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“…Several international efforts have reported that in SMA type 2 patients motor function progression is not linear and that different slopes of progression can be identified using appropriate functional measures such as the HFMSE [ 5 , 8 , 9 , 15 – 17 ] or other measures [ 7 , 18 – 20 ]. In some of those studies, using multivariate/descriptive analysis per cohort or subgroup of patients, age appears to be an important predictor.…”

Section: Discussionmentioning

confidence: 99%

Predictive models in SMA II natural history trajectories using machine learning: A proof of concept study

et al. 2022

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It is known from previous literature that type II Spinal Muscular Atrophy (SMA) patients generally, after the age of 5 years, presents a steep deterioration until puberty followed by a relative stability, as most abilities have been lost. Although it is possible to identify points of slope indicating early improvement, steep decline and relative stabilizations, there is still a lot of variability within each age group and it’s not always possible to predict individual trajectories of progression from age only. The aim of the study was to develop a predictive model based on machine learning using an XGBoost algorithm for regression and report, explore and quantify, in a single centre longitudinal natural history study, the influence of clinical variables on the 6/12-months Hammersmith Motor Functional Scale Expanded score prediction (HFMSE). This study represents the first approach to artificial intelligence and trained models for the prediction of individualized trajectories of HFMSE disease progression using individual characteristics of the patient. The application of this method to larger cohorts may allow to identify different classes of progression, a crucial information at the time of the new commercially available therapies.

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“…Outcomes focus heavily on motor function as health states [9,12] and tend to neglect other aspects, such as performing daily activities, fatiguability, fatigue, pain, psychological issues, or swallowing, which seem to be impacting wellbeing in patients [13,14]. Similarly, other meaningful motor-functional changes, such as fine finger movements that allow better communication via electronic devices, are not captured by current scales [15].…”

Section: Assessment Of Clinical Trial Endpointsmentioning

confidence: 99%

Importance of Patient Involvement in the Value Assessment Process: On the Way Towards Personalised Treatments

Gusset¹

2021

PharmacoEconomics

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Spinal Muscular Atrophy: The Use of Functional Motor Scales in the Era of Disease-Modifying Treatment

Cited by 36 publications

References 48 publications

Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA)

Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA)

Predictive models in SMA II natural history trajectories using machine learning: A proof of concept study

Importance of Patient Involvement in the Value Assessment Process: On the Way Towards Personalised Treatments

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