Systematic review for pharmacoeconomics evaluation in spinal muscular atrophy

ZHU Xiaohong; LIU Shixian; LI Shunping; DOU Lei; WANG Ruixue; SONG Zehua; CHEN Hao

doi:10.6039/j.issn.1001-0408.2024.15.12

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Systematic review for pharmacoeconomics evaluation in spinal muscular atrophy

更新时间：2025-09-23

- Systematic review for pharmacoeconomics evaluation in spinal muscular atrophy
- ZHONGGUO YAOFANG Vol. 35, Issue 15, Pages: 1868-1875(2024)
- 作者机构：
  
  1.山东大学齐鲁医学院公共卫生学院卫生管理与政策研究中心，济南;250012
  2.国家卫生健康委员会卫生经济与政策研究重点实验室（山东大学），济南　250012
  3.山东大学健康偏好研究中心，济南　250012
- 作者简介：
- 基金信息：
- DOI：10.6039/j.issn.1001-0408.2024.15.12
  CLC： R956;R971
- Received：12 December 2023，
  
  Revised：2024-07-22，
  
  Accepted：23 July 2024，
  
  Published：15 August 2024
- 稿件说明：
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朱晓红,刘世贤,李顺平,等.脊髓性肌萎缩药物经济学评价的系统综述 [J].中国药房,2024,35(15):1868-1875.

ZHU Xiaohong,LIU Shixian,LI Shunping,et al.Systematic review for pharmacoeconomics evaluation in spinal muscular atrophy[J].ZHONGGUO YAOFANG,2024,35(15):1868-1875.
朱晓红,刘世贤,李顺平,等.脊髓性肌萎缩药物经济学评价的系统综述 [J].中国药房,2024,35(15):1868-1875. DOI： 10.6039/j.issn.1001-0408.2024.15.12.

ZHU Xiaohong,LIU Shixian,LI Shunping,et al.Systematic review for pharmacoeconomics evaluation in spinal muscular atrophy[J].ZHONGGUO YAOFANG,2024,35(15):1868-1875. DOI： 10.6039/j.issn.1001-0408.2024.15.12.

摘要

目的

综述脊髓性肌萎缩（SMA）药物经济学评价的研究新进展，以期为相关临床治疗、筛查和医保支付决策提供参考。

方法

计算机检索PubMed、Web of Science、Embase、Scopus、Cochrane Library、EBSCOhost、中国知网、维普、中国生物医学文献数据库、万方数据等数据库和英国国家健康研究所、国际卫生保健技术评估协会、美国医疗保健研究与质量局等卫生技术评估（HTA）机构的网站，搜集与SMA相关的药物经济学评价研究。检索时限为建库至2023年12月31日。由2名研究人员严格按照纳入、排除标准进行文献/报告筛选，并使用Excel 2019软件提取所纳入文献/报告的基本信息；采用卫生经济学评价报告标准共识2022评价纳入文献/报告的研究质量。

结果

最终纳入9篇文献和15篇HTA报告，文献的质量整体较好，但HTA报告的质量较差。SMA药物经济学评价研究共计24项，治疗方案包括诺西那生钠、索伐瑞韦、利司扑兰和最佳支持治疗等。综述结果显示，诺西那生钠治疗SMA不具有经济性；利司扑兰和索伐瑞韦等治疗方案的经济性尚无一致结论；新生儿/产前筛查联合药物治疗方案具有经济性。

结论

新生儿/产前筛查联合药物治疗SMA具有经济学优势。建议未来基于我国本土化参数和医保价格继续探讨SMA新型治疗药物与SMA筛查相关的经济性，逐步将SMA筛查纳入新生儿遗传病检测范围，从而缓解患者家庭和卫生体系沉重的经济负担。

Abstract

OBJECTIVE

To review the current research progress on pharmacoeconomics evaluation related to spinal muscular atrophy （SMA）， in order to provide valuable insights for clinical treatment， screening and medical insurance payment decision-making.

METHODS

A computerized search was conducted across multiple databases including PubMed， Web of Science， Embase， Scopus， Cochrane Library， EBSCOhost， CNKI， VIP， CBM and Wanfang database as well as other important health technology assessment （HTA） websites， such as National Institute for Health and Care Research，International Society of Technology Assessment in Health Care， Agency for Healthcare Research and Quality， etc. The pharmacoeconomics evaluation studies related to SMA were collected from the inception to December 31st， 2023. The literature/reports were rigorously screened based on predefined inclusion and exclusion criteria by two researchers， and the essential information from the included literature/reports was extracted using Excel 2019. The quality of the included literature/reports was evaluated by Consolidated Health Economic Evaluation Reporting Standards 2022.

RESULTS

Finally， 9 articles and 15 HTA reports were included， with overall good quality of literature， but poor quality of HTA reports. There were a total of 24 studies on the pharmacoeconomics evaluation of SMA， including treatment options such as nusinersen sodium， sovaprevir， risperidone， and best supportive therapy. The review results showed that nusinersen sodium was not cost-effective in the treatment of SMA； there was no consensus on the economic viability of treatment options such as risperidone and sovaprevir； newborn/prenatal screening combined with medication therapy was cost-effective.

CONCLUSIONS

newborn/prenatal screening combined with SMA medication therapy demonstrates economic advantages. It is suggested to further investigate the cost-effectiveness of new SMA drugs and SMA screening in China， taking localization parameters and medical insurance prices into account， and gradually incorporate SMA screening into the scope of neonatal genetic disease detection， in order to alleviate the financial burden of patients’ families and healthcare systems.

关键词

Keywords

references

CANCES C ， VLODAVETS D ， COMI G P ， et al . Natural history of type 1 spinal muscular atrophy：a retrospective，global，multicenter study [J ] . Orphanet J Rare Dis ， 2022 ， 17 （ 1 ）： 300 .

ZHANG J J ， WANG Y G ， MA D Y ， et al . Carrier scree- ning and prenatal diagnosis for spinal muscular atrophy in 13 069 Chinese pregnant women [J ] . J Mol Diagn ， 2020 ， 22 （ 6 ）： 817 - 822 .

LIN Y M ， LIN C H ， YIN X S ， et al . Newborn screening for spinal muscular atrophy in China using DNA mass spectrometry [J ] . Front Genet ， 2019 ， 10 ： 1255 .

国家卫生健康委，科技部，工业和信息化部，等 . 关于公布第一批罕见病目录的通知 [EB/OL ] . （ 2018-05-11 ）[ 2023-10-10 ] . https：//www.gov.cn/zhengce/zhengceku/2018-12/31/content_5435167.htm https://www.gov.cn/zhengce/zhengceku/2018-12/31/content_5435167.htm .

National Health Commission，Ministry of Science and Technology，Ministry of Industry and Information Technology，et al . Notice on publishing the first batch of rare disease catalogue [EB/OL ] .（ 2018-05-11 ）[ 2023-10-10 ] . https：//www.gov.cn/zhengce/zhengceku/2018-12/31/content_5435167.htm https://www.gov.cn/zhengce/zhengceku/2018-12/31/content_5435167.htm .

ACSADI G ， CRAWFORD T O ， MÜLLER-FELBER W ， et al . Safety and efficacy of nusinersen in spinal muscular atrophy：the EMBRACE study [J ] . Muscle Nerve ， 2021 ， 63 （ 5 ）： 668 - 677 .

STRAUSS K A ， FARRAR M A ， MUNTONI F ， et al . Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy：the phase Ⅲ SPR1NT trial [J ] . Nat Med ， 2022 ， 28 （ 7 ）： 1390 - 1397 .

OSKOUI M ， DAY J W ， DECONINCK N ， et al . Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy（SMA） [J ] . J Neurol ， 2023 ， 270 （ 5 ）： 2531 - 2546 .

药智网 . 诺西那生钠注射液 [EB/OL ] .（ 2022-08-16 ）[ 2023-09-27 ] . https：//db.yaozh.com/zhuce/bp2Za2pjaWlp.html https://db.yaozh.com/zhuce/bp2Za2pjaWlp.html .

Medicine Intelligence Network . Nordenafil sodium injection [EB/OL ] .（ 2022-08-16 ）[ 2023-09-27 ] . https：//db.yaozh. com/zhuce/bp2Za2pjaWlp.html https://db.yaozh.com/zhuce/bp2Za2pjaWlp.html .

药智网 . 利司扑兰口服溶液用散 [EB/OL ] .（ 2021-06-16 ）[ 2023-09-27 ] . https：//db.yaozh.com/zhuce/bp2Za2lra2pq.html https://db.yaozh.com/zhuce/bp2Za2lra2pq.html .

Medicine Intelligence Network . Lisipulan oral solution powder [EB/OL ] .（ 2021-06-16 ）[ 2023-09-27 ] . https：//db.yaozh.com/zhuce/bp2Za2lra2pq.html https://db.yaozh.com/zhuce/bp2Za2lra2pq.html .

药智网 . OAV101注射液 [EB/OL ] .（ 2022-08-16 ）[ 2023-09-27 ] . https：//db.yaozh.com/zhuce/aJ2YcGRkZWo=.html https://db.yaozh.com/zhuce/aJ2YcGRkZWo=.html .

Medicine Intelligence Network . OAV101 injection [EB/OL ] .（ 2022-08-16 ）[ 2023-09-27 ] . https：//db.yaozh.com/zhuce/aJ2YcGRkZWo=.html https://db.yaozh.com/zhuce/aJ2YcGRkZWo=.html .

PARACHA N ， HUDSON P ， MITCHELL S ， et al . Syste- matic literature review to assess economic evaluations in spinal muscular atrophy （SMA） [J ] . Pharmacoeconomics ， 2022 ， 40 （ Suppl. 1 ）： 69 - 89 .

HUSEREAU D ， DRUMMOND M ， AUGUSTOVSKI F ， et al . Consolidated health economic evaluation reporting standards （CHEERS） 2022 explanation and elaboration：a report of the ISPOR CHEERS Ⅱ good practices task force [J ] . Value Health ， 2022 ， 25 （ 1 ）： 10 - 31 .

MALONE D C ， DEAN R ， ARJUNJI R ， et al . Cost-effectiveness analysis of using onasemnogene abeparvocec （AVXS-101） in spinal muscular atrophy type 1 patients [J ] . J Mark Access Health Policy ， 2019 ， 7 （ 1 ）： 1601484 .

ZULUAGA-SANCHEZ S ， TEYNOR M ， KNIGHT C ， et al . Cost effectiveness of nusinersen in the treatment of patients with infantile-onset and later-onset spinal muscular atrophy in Sweden [J ] . Pharmacoeconomics ， 2019 ， 37 （ 6 ）： 845 - 865 .

JALALI A ， ROTHWELL E ， BOTKIN J R ， et al . Cost-effectiveness of nusinersen and universal newborn scree- ning for spinal muscular atrophy [J ] . J Pediatr ， 2020 ， 227 ： 274 - 280.e2 .

THOKALA P ， STEVENSON M ， KUMAR V M ， et al . Cost effectiveness of nusinersen for patients with infanti- le-onset spinal muscular atrophy in US [J ] . Cost Eff Resour Alloc ， 2020 ， 18 ： 41 .

BROEKHOFF T F ， SWEEGERS C C G ， KRIJKAMP E M ， et al . Early cost-effectiveness of onasemnogene abepar- vovec-xioi （Zolgensma） and nusinersen （Spinraza） treatment for spinal muscular atrophy Ⅰ in the Netherlands with relapse scenarios [J ] . Value Health ， 2021 ， 24 （ 6 ）： 759 - 769 .

SHIH S T ， FARRAR M A ， WILEY V ， et al . Newborn screening for spinal muscular atrophy with disease-modifying therapies：a cost-effectiveness analysis [J ] . J Neurol Neurosurg Psychiatry ， 2021 ， 92 （ 12 ）： 1296 - 1304 .

WANG T J ， SCUFFHAM P ， BYRNES J ， et al . Cost-effectiveness analysis of gene-based therapies for patients with spinal muscular atrophy type Ⅰ in Australia [J ] . J Neurol ， 2022 ， 269 （ 12 ）： 6544 - 6554 .

SHIH S T F ， KELLER E ， WILEY V ， et al . Modelling the cost-effectiveness and budget impact of a newborn scree- ning program for spinal muscular atrophy and severe combined immunodeficiency [J ] . Int J Neonatal Screen ， 2022 ， 8 （ 3 ）： 45 .

KHORSHID A ， BOYD A L H ， BEHR B ， et al . Cost-effectiveness of IVF with PGT-M/A to prevent transmission of spinal muscular atrophy in offspring of carrier couples [J ] . J Assist Reprod Genet ， 2023 ， 40 （ 4 ）： 793 - 801 .

National Centre for Pharmacoeconomics . Cost-effective- ness of nusinersen （Spinraza） for the treatment of 5q spinal muscular atrophy （SMA） [EB/OL ] .（ 2017-07-11 ）[ 2023-09-27 ] . https：//www.ncpe.ie/nusinersin-spinraza/ https://www.ncpe.ie/nusinersin-spinraza/ .

Canadian Agency for Drugs and Technologies in Health . Pharmacoeconomic review report：nusinersen （Spinraza）：（Biogen Canada Inc .）：indication：treatment of patients with 5q SMA [EB/OL ] . [ 2023-09-27 ] . https：//pubmed.ncbi.nlm.nih.gov/30480926/ https://pubmed.ncbi.nlm.nih.gov/30480926/ .

National Institute for Health and Care Excellence . Single technology appraisal nusinersen for treating spinal muscular atrophy [ID1069 ] [EB/OL ] .（ 2018-01-15 ）[ 2023-09-27 ] . https：//www.nice.org.uk/guidance/ta740/evidence/appraisal-consultation-committee-papers-pdf-9266538637 https://www.nice.org.uk/guidance/ta740/evidence/appraisal-consultation-committee-papers-pdf-9266538637 .

ZULUAGA-SANCHEZ S ， PURSER M ， MADER G ， et al . Improved quality of life and life-years in patients with infantile-onset spinal muscular atrophy following treatment with nusinersen [EB/OL ] . （ 2019-05-18 ）[ 2023-09-27 ] . https：//www.ispor.org/heor-resources/presentations-database/presentation/intl2019-1846/91949 https://www.ispor.org/heor-resources/presentations-database/presentation/intl2019-1846/91949 .

ZULUAGA-SANCHEZ S ， PURSER M ， MADER G ， et al . Improved quality of life for patients and caregivers among patients with later-onset spinal muscular atrophy following treatment with nusinersen [EB/OL ] . （ 2019-05-18 ）[ 2023-09-27 ] . https：//www.ispor.org/heor-resources/presentations-database/presentation/intl2019-1846/92064 https://www.ispor.org/heor-resources/presentations-database/presentation/intl2019-1846/92064 .

National Institute for Health and Care Excellence . Single technology appraisal risdiplam for treating spinal muscular atrophy in children and adults [ID1631 ] [EB/OL ] . （ 2020-10-01 ） [ 2023-09-27 ] . https：//www.nice.org.uk/guidance/gid-ta10612/documents/committee-papers https://www.nice.org.uk/guidance/gid-ta10612/documents/committee-papers .

ARJUNJI R ， ZHOU J ， PATEL A ， et al . PND5 cost-effectiveness analysis of newborn screening for spinal muscular atrophy in the United States [J ] . Value Health Reg News ， 2020 ， 22 ： S75 .

DEAN R ， ARJUNJI R ， AWANO H ， et al . Cost-effectiveness of onasemnogene abeparvovec for spinal muscular atrophy type 1 （SMA 1） against nusinersen in Japan [EB/OL ] . （ 2020-10-23 ） [ 2023-09-27 ] . https：//www.ispor.org/docs/default-source/intl2020/1140691avexisispor- japan-cea-bim-poster5-15-20cfinal-pdf.pdf?sfvrsn=9e4fe- 5bf_0 https://www.ispor.org/docs/default-source/intl2020/1140691avexisispor-japan-cea-bim-poster5-15-20cfinal-pdf.pdf?sfvrsn=9e4fe-5bf_0 .

Scottish Medicines Consortium . Onasemnogene abepar- vovec 2 × 10 13 vector genomes/mL solution for infusion （Zolgensma®）[EB/OL ] . （ 2021-02-05 ） [ 2023-09-27 ] . https：//www.scottishmedicines.org.uk/media/5813/onase- mnogene-abeparvovec-zolgensma-final-feb-2021-amended-010321docx-for-website.pdf https://www.scottishmedicines.org.uk/media/5813/onase-mnogene-abeparvovec-zolgensma-final-feb-2021-amended-010321docx-for-website.pdf .

Scottish Medicines Consortium . Onasemnogene abepar- vovec for the treatment of patients with 5q SMA with a biallelic mutation in the SMN1 gene and a clinical diagnosis of SMA Type 1 ，or patients with 5q SMA with a biallelic mutation in the SMN1 gene and up to 3 copies of the SMN2 gene[EB/OL ] . （ 2021-03-08 ）[ 2023-09-27 ] . https：//database.inahta.org/article/19582 https://database.inahta.org/article/19582 .

CADTH . Reimbursement review . Risdiplam （Evrysdi®） [EB/OL ] . （ 2021-08-26 ） [ 2023-09-27 ] . https：//www.cadth.ca/risdiplam https://www.cadth.ca/risdiplam .

National Centre for Pharmacoeconomics . Risdiplam （Evrysdi ® ） [EB/OL ] .（ 2022-03-15 ）[ 2023-09-27 ] . https：//www.ncpe.ie/risdiplam-evrysdi-hta-id-21006/ https://www.ncpe.ie/risdiplam-evrysdi-hta-id-21006/ .

HU J H ， SUTHERLAND C S ， RIBERO V A ， et al . Cost-effectiveness of risdiplam versus nusinersen for treating patients with spinal muscular atrophy type 1 in China [EB/OL ] . （ 2022-12-03 ）[ 2023-09-27 ] . https：//www.ispor.org/docs/default-source/euro2021/113922jiahaohuhandout-pdf.pdf？sfvrsn=54432135_0 https://www.ispor.org/docs/default-source/euro2021/113922jiahaohuhandout-pdf.pdf?sfvrsn=54432135_0 .

KOLBIN A S ， KURYLEV A A ， MISHINOVA S A ， et al . The health-economic evaluation of risdiplam in patients with spinal muscular atrophy [EB/OL ] . （ 2022-10-23 ） [ 2023-09-27 ] . https：//www.ispor.org/docs/default-source/euro2021/hearisdiplam-pdf.pdf？sfvrsn=c8ecea7c_0 https://www.ispor.org/docs/default-source/euro2021/hearisdiplam-pdf.pdf?sfvrsn=c8ecea7c_0 .

CADTH . Reimbursement review . Nusinersen （Spinraza®） [EB/OL ] . （ 2022-08-11 ） [ 2023-09-27 ] . https：//www.cadth.ca/nusinersen-1 https://www.cadth.ca/nusinersen-1 .

FINKEL R S ， MERCURI E ， DARRAS B T ， et al . Nusi- nersen versus sham control in infantile-onset spinal muscular atrophy [J ] . N Engl J Med ， 2017 ， 377 （ 18 ）： 1723 - 1732 .

MERCURI E ， DARRAS B T ， CHIRIBOGA C A ， et al . Nusinersen versus sham control in later-onset spinal muscular atrophy [J ] . N Engl J Med ， 2018 ， 378 （ 7 ）： 625 - 635 .

DARRAS B T ， CHIRIBOGA C A ， IANNACCONE S T ， et al . Nusinersen in later-onset spinal muscular atrophy：long-term results from the phase 1/2 studies [J ] . Neuro- logy ， 2019 ， 92 （ 21 ）： e2492 - e2506 .

DE VIVO D C ， BERTINI E ， SWOBODA K J ， et al . Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy：interim efficacy and safety results from the phase 2 NURTURE study [J ] . Neuromuscul Disord ， 2019 ， 29 （ 11 ）： 842 - 856 .

CASTRO D ， FINKEL R S ， FARRAR M A ， et al . Nu- sinersen in infantile-onset spinal muscular atrophy：results from longer-term treatment from the open-label shine extension study：1640 [EB/OL ] . （ 2021-04-05 ）[ 2023-09-27 ] . https：//clinicaltrials.gov/study/NCT02865109 https://clinicaltrials.gov/study/NCT02865109 .

DAY J W ， FINKEL R S ， CHIRIBOGA C A ， et al . Onasemnogene abeparvovec gene therapy for sympto- matic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 （STR1VE）：an open-label， single-arm，multicentre，phase Ⅲ trial [J ] . Lancet Neurol ， 2021 ， 20 （ 4 ）： 284 - 293 .

MERCURI E ， MUNTONI F ， BARANELLO G ， et al . Onasemnogene abeparvovec gene therapy for sympto- matic infantile-onset spinal muscular atrophy type 1 （STR1VE-EU）：an open-label，single-arm，multicentre，phase 3 trial [J ] . Lancet Neurol ， 2021 ， 20 （ 10 ）： 832 - 841 .

MENDELL J R ， AL-ZAIDY S A ， LEHMAN K J ， et al . Five-year extension results of the phase 1 START trial of onasemnogene abeparvovec in spinal muscular atrophy [J ] . JAMA Neurol ， 2021 ， 78 （ 7 ）： 834 - 841 .

MASSON R ， MAZURKIEWICZ-BEŁDZIŃSKA M ， ROSE K ， et al . Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy （FIREFISH part 2）：secondary analyses from an open-label trial [J ] . Lancet Neurol ， 2022 ， 21 （ 12 ）： 1110 - 1119 .

MERCURI E ， DECONINCK N ， MAZZONE E S ， et al . Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy （SUNFISH part 2）：a phase 3，double-blind，randomised，placebo-controlled trial [J ] . Lancet Neurol ， 2022 ， 21 （ 1 ）： 42 - 52 .

CHIRIBOGA C A ， BRUNO C ， DUONG T ， et al . Risdiplam in patients previously treated with other therapies for spinal muscular atrophy：an interim analysis from the JEWELFISH study [J ] . Neurol Ther ， 2023 ， 12 （ 2 ）： 543 - 557 .

KHAN K A ， PETROU S ， RIVERO-ARIAS O ， et al . Mapping EQ-5D utility scores from the PedsQL TM generic core scales [J ] . Pharmacoeconomics ， 2014 ， 32 （ 7 ）： 693 - 706 .

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