Nusinersen for adults with spinal muscular atrophy

Arslan, Doruk; İnan, Berin; Kılınç, Muhammed; Bekircan-Kurt, Can Ebru; Erdem-Özdamar, Sevim; Tan, Ersin

doi:10.1007/s10072-023-06698-9

Cited by 8 publications

(4 citation statements)

References 29 publications

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“…Subsequent real-life studies, including both prospective and retrospective observational studies, have further supported the beneficial effects of nusinersen on motor function in pediatric and adult patients with SMA types 1, 2, and 3. 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 …”

Section: Resultsmentioning

confidence: 99%

Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy

Zanoteli,

Araujo,

Becker

et al. 2024

Arq Neuropsiquiatr

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Spinal muscular atrophy linked to chromosome 5 (SMA-5q) is an autosomal recessive genetic disease caused by mutations in the SMN1. SMA-5q is characterized by progressive degeneration of the spinal cord and bulbar motor neurons, causing severe motor and respiratory impairment with reduced survival, especially in its more severe clinical forms. In recent years, highly effective disease-modifying therapies have emerged, either acting by regulating the splicing of exon 7 of the SMN2 gene or adding a copy of the SMN1 gene through gene therapy, providing a drastic change in the natural history of the disease. In this way, developing therapeutic guides and expert consensus becomes essential to direct the use of these therapies in clinical practice. This consensus, prepared by Brazilian experts, aimed to review the main available disease-modifying therapies, critically analyze the results of clinical studies, and provide recommendations for their use in clinical practice for patients with SMA-5q. This consensus also addresses aspects related to diagnosis, genetic counseling, and follow-up of patients under drug treatment. Thus, this consensus provides valuable information regarding the current management of SMA-5q, helping therapeutic decisions in clinical practice and promoting additional gains in outcomes.

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Section: Resultsmentioning

confidence: 99%

Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy

Zanoteli,

Araujo,

Becker

et al. 2024

Arq Neuropsiquiatr

View full text Add to dashboard Cite

show abstract

“…To provide context for our functional gains, we obtained a median of +24m, minimum +20m and maximum +34m changes in 6MWT scores in 4 weeks. Recent reports on the efficacy of the clinically approved SMN inducing drug Nusinersen in ambulatory adults 65 show that people gain a median of 20 minimum of 9m and maximum of 48m in the 6MWT after 15 months. This means that our data is comparable with efficacy of approved clinical treatments but obtained in only 4 weeks.…”

Section: Discussionmentioning

confidence: 99%

Targeted Stimulation of the Sensory Afferents Improves Motoneuron Function in Humans With a Degenerative Motoneuron Disease

Prat-Ortega,

Ensel,

Donadio

et al. 2024

Preprint

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Spinal Muscular Atrophy (SMA) is an inherited neurodegenerative disease causing motoneuron dysfunction, muscle weakness and early mortality. Three therapies can slow disease progression enabling people to survive albeit with lingering motoneuron dysfunction and severe motor impairments. Here we introduce a neurotechnological approach that improved spinal motoneuron function, muscle strength and walking in three adults with SMA. Starting from preclinical evidence showing that motoneuron dysfunction in SMA originates from the loss of excitatory inputs from primary afferents we hypothesized that augmentation of sensory neural activity with targeted electrical stimulation could compensate for this loss thereby improving motoneuron function. To test this hypothesis we implanted three adults with SMA with epidural electrodes over the lumbosacral spinal cord to stimulate the sensory axons of the legs. We stimulated participants for 4 weeks 2 hours per day while they executed tested walking and strength tasks. Remarkably, our neurostimulation regime led to robust improvements in strength, walking and fatigue paralleled by reduced neuronal hyperexcitability, increased sensory inputs and higher motoneuron firing rates. Our data indicate that targeted neurostimulation can reverse degenerative processes of circuit dysfunction thus promoting disease modifying effects in a human neurodegenerative disease.

show abstract

“…To provide context for our functional gains, we obtained a median of +24m, minimum +20m and maximum +34m changes in 6MWT scores in 4 weeks. Recent reports on the efficacy of the clinically approved SMN inducing drug Nusinersen in ambulatory adults 64 show that people gain a median of 20 minimum of 9m and maximum of 48m in the 6MWT after 15 months. This means that our data is comparable with efficacy of approved clinical treatments but obtained in only 4 weeks.…”

Section: Discussionmentioning

confidence: 99%

Targeted Stimulation of the Sensory Afferents Improves Motoneuron Function in Humans With Spinal Muscular Atrophy

Capogrosso,

Prat-Ortega,

Ensel

et al. 2024

Preprint

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Spinal Muscular Atrophy (SMA) is an inherited neurodegenerative disease causing motoneuron dysfunction, muscle weakness and early mortality1,2. Three therapies can slow disease progression enabling people to survive albeit with lingering motoneuron dysfunction and severe motor impairments3,4. Here we introduce a neurotechnological approach that improved spinal motoneuron function, muscle strength and walking in three adults with SMA. Starting from preclinical evidence showing that motoneuron dysfunction in SMA originates from the loss of excitatory inputs from primary afferents5,6, we hypothesized that augmentation of sensory neural activity with targeted electrical stimulation could compensate for this loss thereby improving motoneuron function. To test this hypothesis we implanted three adults with SMA with epidural electrodes over the lumbosacral spinal cord to stimulate the sensory axons of the legs7,8. We stimulated participants for 4 weeks 2 hours per day while they executed walking and strength tasks. Remarkably, our neurostimulation regime led to robust improvements in strength, walking and fatigue paralleled by reduced neuronal hyperexcitability, increased sensory inputs and higher motoneuron firing rates. Our data indicates that targeted neurostimulation can reverse degenerative processes of circuit dysfunction thus promoting disease modifying effects in a human neurodegenerative disease.

show abstract

Nusinersen for adults with spinal muscular atrophy

Cited by 8 publications

References 29 publications

Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy

Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy

Targeted Stimulation of the Sensory Afferents Improves Motoneuron Function in Humans With a Degenerative Motoneuron Disease

Targeted Stimulation of the Sensory Afferents Improves Motoneuron Function in Humans With Spinal Muscular Atrophy

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