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Abstract
Here is a typical scenario which is relevant when looking at several other progressive and life-threatening genetic disorders. A child with spinal muscular atrophy (SMA I) is due to be born in five months, proven by prenatal diagnosis. The parents lost two infants several years ago. What are their options? How can we advise, manage, and draw up a plan in the meantime? A few years ago, we had almost zero options apart from standard care measures, such as respiratory support, adequate nutrition, vaccinations, physiotherapy and similar; in other words, the situation was desperate.
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References
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muscular atrophy. N Engl J Med 2017;377:1723-32.
2. Mendell JR, Al-Zaidy S, Shell R, et al. Single-dose gene- replacement therapy for spinal muscular
atrophy. N Engl J Med 2017;377:1713-22.
3. Finkel RS, Castro D, Farrar M, et al. Nusinersen in infantile-onset spinal muscular atrophy: results
from longer-term treatment from the open-label SHINE extension study. Neuromuscul Disord
2020;30:P266
4. Mendell J, Shell R, Lehman K, et al. Long-term follow-up of onasemnogene abeparvovec gene
therapy in spinal muscular atrophy type 1 (SMA1). Neuromuscul Disord 2020;30:P261
5. De Vivo, D, Bertini E, Swoboda KJ, 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. Neuromusucul Disord 2019;29:842-56.
6. Servais L, Bloespflug-Tanguy O, Darras B, et al. FIREFISH Parts 1 and 2: 12-month pooled safety
and efficacy outcomes of risdiplam (RG/)16) in infants with Type 1 spinal muscular atrophy
(SMA). Neuromuscul Disord 2020;30:p271.
7. Editorial. Gene therapy’s next installment. Nature Biotechnology 2019;37:697.
8. Neumann PJ, Cohen JT, Weinstein MC. Updating cost-effectiveness-The corious resilienceof the
$50,000-per-QALY threshold. N Enlg J Med 2014;371:9
References
muscular atrophy. N Engl J Med 2017;377:1723-32.
2. Mendell JR, Al-Zaidy S, Shell R, et al. Single-dose gene- replacement therapy for spinal muscular
atrophy. N Engl J Med 2017;377:1713-22.
3. Finkel RS, Castro D, Farrar M, et al. Nusinersen in infantile-onset spinal muscular atrophy: results
from longer-term treatment from the open-label SHINE extension study. Neuromuscul Disord
2020;30:P266
4. Mendell J, Shell R, Lehman K, et al. Long-term follow-up of onasemnogene abeparvovec gene
therapy in spinal muscular atrophy type 1 (SMA1). Neuromuscul Disord 2020;30:P261
5. De Vivo, D, Bertini E, Swoboda KJ, 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. Neuromusucul Disord 2019;29:842-56.
6. Servais L, Bloespflug-Tanguy O, Darras B, et al. FIREFISH Parts 1 and 2: 12-month pooled safety
and efficacy outcomes of risdiplam (RG/)16) in infants with Type 1 spinal muscular atrophy
(SMA). Neuromuscul Disord 2020;30:p271.
7. Editorial. Gene therapy’s next installment. Nature Biotechnology 2019;37:697.
8. Neumann PJ, Cohen JT, Weinstein MC. Updating cost-effectiveness-The corious resilienceof the
$50,000-per-QALY threshold. N Enlg J Med 2014;371:9