Main Article Content


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.

Article Details

How to Cite
Topaloglu, H. (2021). Expensive molecular therapies for rare genetic disorders: carrier detection or newborn screening should be the strategy. A personal opinion. Journal of the International Child Neurology Association, 1(1).


    1. Finkel RS, Mercuri E, Darras BT, et al. Nusinersen versus sham control in infantile-onset spinal
    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
    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