Clinical Experience with Gene Therapy in Older Spinal Muscular Atrophy Patients

This industry update features a round-up of pharmaceutical news in May 2019 based on press releases and websites. The month was characterized by the achievement of significant milestones in gene therapy. The biggest of these was the US FDA’s approval of Zolgensma®. This medicine sums up the promise and price of genetic medicine. On one hand the clinical results show Zolgensma can dramatically improve the prognosis for infants with spinal muscular atrophy after just one administration, while on the other, it has been priced at around US$2.1 million. With more such therapies likely to reach the market, the debate on Zolgensma goes beyond cost, to overall affordability, the true meaning of cost–effectiveness and how to reward companies for effective, innovative medicines.

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Gene therapy for spinal muscular atrophy: hope and caution

The Lancet Neurology ◽

10.1016/s1474-4422(21)00071-5 ◽

2021 ◽

Vol 20 (4) ◽

pp. 251-252

Author(s):

Nathalie Goemans

Keyword(s):

Gene Therapy ◽

Spinal Muscular Atrophy ◽

Muscular Atrophy

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2020 Update to Spinal Muscular Atrophy Management in Saudi Arabia

Frontiers in Pediatrics ◽

10.3389/fped.2021.684134 ◽

2021 ◽

Vol 9 ◽

Author(s):

Fahad A. Bashiri ◽

Mohamad-Hani Temsah ◽

Khalid Hundallah ◽

Fahad Alsohime ◽

Yazed AlRuthia

Keyword(s):

Gene Therapy ◽

Saudi Arabia ◽

Spinal Muscular Atrophy ◽

Muscular Atrophy ◽

Management Strategies ◽

Annual Conference ◽

Type I ◽

Cross Sectional Survey ◽

Cross Sectional ◽

Society Annual

Novel therapeutic strategies have shown some promise in treating spinal muscular atrophy (SMA). However, the outcomes and acceptance of these new strategies are yet to be explored. We aimed to investigate physicians' opinions and perceptions toward management strategies of SMA across Saudi Arabia. This is a cross-sectional survey using a self-administered, structured questionnaire sent to physicians who care for SMA patients during the Saudi Pediatric Neurology Society annual conference. A total of 72 clinicians of different neurological subspecialties were included. 48.6% prescribed nusinersen to their patients, with 39% of them having patients started on nusinersen. Though, 8.3% prescribed onasemnogene abeparvovec for 1–3 patients, while none of their patients started on the treatment. 64.3% stated that the only treatment available for SMA in their settings is supportive care. Around 69.4% described having a moderate to high knowledge on SMA gene therapy, and 79.2% would recommend it. 48.6% confirmed they would prescribe gene therapy at the age of 6 months, and 78.3% would prescribe it for type-I SMA. Pediatric neurologists are receptive to novel and innovative therapies for SMA in Saudi Arabia. However, the high treatment acquisition cost, strict regulations, logistical issues, and budget constraints delay their adoption and implementation.

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Newborn screening for spinal muscular atrophy with disease-modifying therapies: a cost-effectiveness analysis

Journal of Neurology Neurosurgery & Psychiatry ◽

10.1136/jnnp-2021-326344 ◽

2021 ◽

pp. jnnp-2021-326344

Author(s):

Sophy TF Shih ◽

Michelle Anne Farrar ◽

Veronica Wiley ◽

Georgina Chambers

Keyword(s):

Gene Therapy ◽

Cost Effectiveness ◽

Spinal Muscular Atrophy ◽

Newborn Screening ◽

Markov Models ◽

Muscular Atrophy ◽

Early Gene ◽

Sensitivity Analyses ◽

Life Years ◽

Late Treatment

ObjectiveTo assess cost-effectiveness of newborn screening (NBS) for spinal muscular atrophy (SMA) and early treatment with nusinersen or onasemnogene abeparvovec (gene therapy), compared with nusinersen without SMA screening.MethodsInformed by an Australian state-wide SMA NBS programme, a decision analytical model nested with Markov models was constructed to evaluate costs and quality-adjusted life-years (QALYs) from a societal perspective with sensitivity analyses.ResultsBy treating one presymptomatic SMA infant with nusinersen or gene therapy, an additional 9.93 QALYs were gained over 60 years compared with late treatment in clinically diagnosed SMA. The societal cost was $9.8 million for early nusinersen treatment, $4.4 million for early gene therapy and $4.8 million for late nusinersen treatment. Compared with late nusinersen treatment, early gene therapy would be dominant, gaining 9.93 QALYs while saving $360 000; whereas early nusinersen treatment would result in a discounted incremental cost-effectiveness ratio (ICER) of $507 000/QALY.At a population level, compared with no screening and late treatment with nusinersen, NBS and early gene therapy resulted in 0.00085 QALY gained over 60 years and saving $24 per infant screened (85 QALYs gained and $2.4 million saving per 100 000 infants screened). More than three quarters of simulated ICERs by probability sensitivity analyses showed NBS and gene therapy would be dominant or less than $50 000/QALY, compared with no screening and late nusinersen treatment.ConclusionNBS coupled with gene therapy improves the quality and length of life for infants with SMA and would be considered value-for-money from an Australian clinical and policy context.

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