Spinal muscular atrophy care in the COVID‐19 pandemic era

Veerapandiyan, Aravindhan; Connolly, Anne M.; Finkel, Richard S.; Arya, Kapil; Mathews, Katherine D.; Smith, Edward C.; Castro, Diana; Butterfield, Russell J.; Parsons, Julie; Servais, Laurent; Kuntz, Nancy L.; Rao, Vamshi K.; Brandsema, John F.; Mercuri, E.; Ciafaloni, Emma

doi:10.1002/mus.26903

Cited by 35 publications

(46 citation statements)

References 17 publications

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“…A higher dose, and therefore higher CSF drug levels, may potentiate nusinersen efficacy in patients who were described as non-responders in this study. It has already been reported that higher nusinersen CSF exposure correlated with greater increase in motor outcome scales as well as greater decline in neurofilament levels [ 28 ]. However, potential concordant increasing side effects need to be taken into account [ 2 , 10 ].…”

Section: Discussionmentioning

confidence: 99%

Nusinersen Wearing-Off in Adult 5q-Spinal Muscular Atrophy Patients

2021

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The antisense oligonucleotide nusinersen was the first drug treatment available for all types of 5q-spinal muscular atrophy (SMA). The dosing regime has been derived from pivotal clinical trials in infants and children. The efficacy of nusinersen in severely affected adult SMA patients is still questionable, as no placebo-controlled trials have been conducted. In the present study, we systematically examined wearing-off phenomena during nusinersen maintenance dosing using a patient-centered approach. We found that adult SMA patients perceived wearing-off after nearly half of 51 investigated nusinersen administrations, primarily within the last month prior to the next administration. Symptoms and functions affected were mainly general strength and arm and leg muscle function next to endurance and independence in daily routine. Lack of walking ability and higher body mass index were characteristic phenotypic features in patients with consistent wearing-off effects. We assume that specific SMA phenotypes might benefit from higher dosing, shorter treatment intervals, change of treatment administration or a combination of all. Efforts towards treatment optimization may result in higher efficacy in distinct phenotypes.

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Section: Discussionmentioning

confidence: 99%

Nusinersen Wearing-Off in Adult 5q-Spinal Muscular Atrophy Patients

2021

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“…Recent expert consensus 69 promotes timely and consistent treatment for spinal muscular atrophy whenever possible to yield better outcomes. Adherence to nusinersen dosing timeline is important; missed doses should be given as soon as possible, and the original schedule resumed.…”

Section: Management Of Neurologic Diseases In the Covid-19 Pandemicmentioning

confidence: 99%

A Comprehensive Review of Neurologic Manifestations of COVID-19 and Management of Pre-existing Neurologic Disorders in Children

et al. 2020

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Since the first reports of SARS-CoV-2 infection from China, multiple studies have been published regarding the epidemiologic aspects of COVID-19 including clinical manifestations and outcomes. The majority of these studies have focused on respiratory complications. However, recent findings have highlighted the systemic effects of the virus, including its potential impact on the nervous system. Similar to SARS-CoV-1, cellular entry of SARS-CoV-2 depends on the expression of ACE2, a receptor that is abundantly expressed in the nervous system. Neurologic manifestations in adults include cerebrovascular insults, encephalitis or encephalopathy, and neuromuscular disorders. However, the presence of these neurologic findings in the pediatric population is unclear. In this review, the potential neurotropism of SARS-CoV-2, known neurologic manifestations of COVID-19 in children, and management of preexisting pediatric neurologic conditions during the COVID-19 pandemic are discussed.

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“…In the case of nusinersen (intrathecal administration with a loading dose of 4 doses the first 2 months and then every 4 months), it has been reported that the delay of 1 month without medication leads to a 10% reduction of the drug in CSF. If there is a delay in administration, the schedule should not be readjusted, but rather follow initial proposed calendar to ensure optimal intrathecal medication levels (34).…”

Section: Treatmentmentioning

confidence: 99%

Neuromuscular Diseases Care in the Era of COVID-19

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2020

Front. Neurol.

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The COVID-19 pandemic has pushed health systems to their limit and forced readjustment of standards of care for different pathologies. Management of neuromuscular diseases becomes a challenge since most of them are chronic, disabling, progressive, and/or require immunosuppressive drugs. There are three main aspects of COVID-19 that affect neuromuscular diseases care. The first one relates to how SARS-CoV2 directly affects different neuromuscular pathologies. Respiratory weakness, as seen in myasthenia gravis, amyotrophic lateral sclerosis, and myopathies, and the use of immunomodulatory drugs (Myasthenia Gravis and Chronic Inflammatory Demyelinating Polyneuropathy) make this group of patients potentially more vulnerable. Secondly, safety measures also affect proper care, limiting care continuity, and physical rehabilitation (one of the essential aspects of myopathies treatment). Telemedicine can partially solve the problem allowing for a continuum of close care, avoiding unnecessary visits, and even guaranteeing the attention of professionals from tertiary care centers. However, one of the crucial steps in neuromuscular diseases is diagnosis, and in most scenarios, more than one face-to-face visit is needed. Lastly, the global COVID-19 situation will also have an economic impact on patients and their families. This situation is of particular concern given that neuromuscular diseases already present difficulties due to the scarcity of resources in terms of public healthcare and research.

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Spinal muscular atrophy care in the COVID‐19 pandemic era

Cited by 35 publications

References 17 publications

Nusinersen Wearing-Off in Adult 5q-Spinal Muscular Atrophy Patients

Nusinersen Wearing-Off in Adult 5q-Spinal Muscular Atrophy Patients

A Comprehensive Review of Neurologic Manifestations of COVID-19 and Management of Pre-existing Neurologic Disorders in Children

Neuromuscular Diseases Care in the Era of COVID-19

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