Systematic Literature Review of Clinical and Economic Evidence for Spinal Muscular Atrophy

Yang, Min; Awano, Hiroyuki; Tanaka, Satoru; Toro, Walter; Zhang, Su; Dabbous, O.; Igarashi, Ataru

doi:10.1007/s12325-022-02089-2

Cited by 8 publications

(3 citation statements)

References 106 publications

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“…Along with these new therapies, SMA care has conserved its complexity, requiring a high-level expertise for the management of the respiratory and nutritional issues and of other complex healthcare needs presented by these patients (Fauroux et al, 2020;Yerushalmy-Feler et al, 2021). The changes in the therapeutic landscape, including OMPs, require adopting a comprehensive rather than a piecemeal approach when evaluating the relative efficacy and safety profile of different interventions (Yang et al, 2022). This can only be obtained in a realworld setting through data collection systems globally monitoring patients over an adequate time period.…”

Section: Discussionmentioning

confidence: 99%

Real-world use of orphan medicinal products (OMPs) in rare disease (RD) patients: A population-based registry study

Mazzucato

Minichiello²,

Vianello³

et al. 2022

Front. Pharmacol.

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Background: Despite calls for the use of real-world data, the rare diseases (RD) treatment landscape suffers from a scarcity of data referred to orphan medicinal products (OMP) use at the population level.Objectives: We aim to describe the characteristics and patterns of utilization of OMP in a sizable group of RD patients globally monitored by an area-based rare diseases registry located in the Veneto region, Italy, during a 3-year period (1 January 2019 to 31 December 2021).Methods: A list of OMP (n = 60) was assembled for study purposes, according to extensive criteria with regard to the status of orphan designation and of national reimbursement decisions.Results: OMP prescriptions involved 1,010 patients, corresponding to the 2.3% of all the patients monitored by the RD registry. Nearly one out of five (22.8%) was a pediatric patient at the time of the first prescription. OMP use interested a limited proportion (17.5%) of diseases approaching the rarity threshold, having a prevalence of less than five per 10,000, while individuals affected by these more common rare conditions represented 49% of all the patients receiving an OMP prescription. A clustering effect of OMP use was observed in selected groups of diseases, mainly, neurological, hematological, and hereditary metabolic ones. Medication plans including an OMP show in the 45.9% of the cases a high level of complexity, both in terms of nature and number of co-prescribed treatments. Off-label use interested 15.3% (n = 155) of all the RD patients with at least an OMP prescription during the study period.Conclusion: Data collected in a real-world setting through population-based registries globally monitoring RD patients, including related medication plans, have the potential to identify which diseases, and thus patients, have less benefit from the advent of OMP so far. Furthermore, in the rapidly evolving RD therapeutic landscape, they can help understand which therapeutic areas are most in need of investment to address existing unmet care needs.

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Section: Discussionmentioning

confidence: 99%

Real-world use of orphan medicinal products (OMPs) in rare disease (RD) patients: A population-based registry study

Mazzucato

Minichiello²,

Vianello³

et al. 2022

Front. Pharmacol.

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“…Para crianças com mais de 5 anos de idade, a capacidade vital forçada pode ser monitorizada rotineiramente e o suporte ventilatório não invasivo pode ser gerido a longo prazo. A hipoventilação noturna também deve ser tratada com ventilação não invasiva (YANG M, et al, 2022).…”

Section: Tratamentounclassified

Uma análise da atrofia muscular espinhal

Alves,

Vieira,

Teixeira

et al. 2024

Acervo Saúde

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Objetivo: Analisar as características da atrofia muscular espinhal (AME). Revisão bibliográfica: A AME é uma das doenças neurodegenerativas monogênicas mais frequentes, com incidência de cerca de 1:10.000 em recém-nascidos. A marca registrada da doença é a degeneração das células do corno anterior da medula espinhal, levando ao sintoma característico de fraqueza proximal progressiva, envolvendo vários graus de atrofia muscular. Além disso, as crianças com AME desenvolvem fraqueza do diafragma e dos músculos acessórios da respiração, levando à insuficiência respiratória e risco de aspiração. Os subtipos clínicos de AME são definidos pela função motora máxima. Considerações finais: A AME é uma doença genética neurodegenerativa cuja progressão depende do subtipo clínico que varia de 0 a 4. Seu diagnóstico se baseia em testes genéticos moleculares, como o teste genético de SMN1/SMN2. O tratamento da patologia é feito com medicamentos como o Nusinersen e Sovaprevir que são injetáveis e o Risdiplam que é uma medicação mais nova e oral. Além disso, o treinamento físico e fisioterapia constituem pilares essenciais na manutenção dos movimentos nesses pacientes.

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“…Across the past decade, a substantial body of literature has accumulated with respect to health-related quality of life (HRQoL) in SMA [11][12][13]. However, few studies have investigated self-assessed HRQoL in pediatric cohorts.…”

Section: Introductionmentioning

confidence: 99%

Self-Reported Health-Related Quality of Life of Children with Spinal Muscular Atrophy: Preliminary Insights from a Nationwide Patient Registry in Germany

Landfeldt,

Leibrock,

Hussong

et al. 2023

Journal of Neuromuscular Diseases

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Background: Spinal muscular atrophy (SMA) is a rare, severely debilitating neuromuscular disease characterized by a wide spectrum of progressive muscular atrophy and weakness. Objectives: The objective of this pilot study was to estimate self-assessed health-related quality of life (HRQoL) of children with SMA. Methods: Children with SMA were recruited via the German national TREAT-NMD SMA patient registry and asked to self-complete the following rating-scales: KIDSCREEN-27, KINDL, the PedsQL 3.0 Neuromuscular Module (PedsQL 3.0 NMM), EQ-5D-5L, and the Health Utilities Index (HUI). Estimates were stratified by current best motor function of the lower limb and trunk (i.e., non-sitter, sitter, and walker) and SMA type (i.e., type I, II, and III). Results: In total, 17 children with SMA (mean age: 9.88 years, SD: 4.33 years, range: 5–16 years; 59% female) participated in the study. Across examined strata, the mean KIDSCREEN-27 total score was estimated at between 48.24 and 83.81; the mean KINDL total score at between 60.42 and 76.73; the mean PedsQL 3.0 NMM total score at between 58.00 and 83.83; the mean EQ-5D-5L utility at between 0.31 and 0.99; and the mean HUI-derived utility at between –0.02 and 0.96. Conclusions: The results from this pilot study show that German children with SMA, despite significant physical disability, have surprisingly good HRQoL as assessed using KIDSCREEN-27. Yet, many reside in health states associated with low utility. The disease burden was generally higher among non-sitters compared with walkers, and SMA type I compared with type III, but more research is needed to further delineate this variability. Our preliminary findings contribute to the understanding of HRQoL in pediatric patients with SMA and should be helpful to inform the design of future studies of this patient population.

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Systematic Literature Review of Clinical and Economic Evidence for Spinal Muscular Atrophy

Cited by 8 publications

References 106 publications

Real-world use of orphan medicinal products (OMPs) in rare disease (RD) patients: A population-based registry study

Real-world use of orphan medicinal products (OMPs) in rare disease (RD) patients: A population-based registry study

Uma análise da atrofia muscular espinhal

Self-Reported Health-Related Quality of Life of Children with Spinal Muscular Atrophy: Preliminary Insights from a Nationwide Patient Registry in Germany

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