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New treatments in spinal muscular atrophy

ARCHIVES OF DISEASE IN CHILDHOOD (2023)

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Article Clinical Neurology

Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2) : a phase 3, double-blind, randomised, placebo-controlled trial

Eugenio Mercuri et al.

Summary: Risdiplam has shown significant improvement in motor function compared to placebo in patients with type 2 or non-ambulant type 3 spinal muscular atrophy. Motor function generally improved in younger patients and stabilized in older patients.

LANCET NEUROLOGY (2022)

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Article Clinical Neurology

Risdiplam treatment has not led to retinal toxicity in patients with spinal muscular atrophy

Robert C. Sergott et al.

Summary: Evaluation of ophthalmologic safety in patients with spinal muscular atrophy (SMA) treated with risdiplam showed no retinal structural or functional changes, suggesting that safety ophthalmologic monitoring is not needed in these patients.

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2021)

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Article Gastroenterology & Hepatology

Hepatotoxicity following administration of onasemnogene abeparvovec (AVXS-101) for the treatment of spinal muscular atrophy

Deepa Chand et al.

Summary: This study focuses on the risk of liver injury associated with OA in the treatment of SMA and provides guidance on its management. Analysis of data from 325 patients receiving OA treatment showed elevated liver function test results in some patients. Most patients mitigated these adverse effects through prophylactic prednisolone treatment.

JOURNAL OF HEPATOLOGY (2021)

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Article Clinical Neurology

Type I SMA new natural history: long-term data in nusinersen-treated patients

Marika Pane et al.

Summary: The study found that there was significant improvement in motor function for type I spinal muscular atrophy patients treated with Nusinersen during the two-year follow-up, especially in infants treated within the first two years.

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2021)

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Article Pediatrics

Thrombotic Microangiopathy Following Onasemnogene Abeparvovec for Spinal Muscular Atrophy: A Case Series

Deepa H. Chand et al.

Summary: Spinal muscular atrophy is treated with onasemnogene abeparvovec, but it can lead to drug-induced thrombotic microangiopathy in some infants. Early recognition and treatment of this complication may reduce mortality and morbidity.

JOURNAL OF PEDIATRICS (2021)

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Article Clinical Neurology

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial

John W. Day et al.

Summary: The study evaluated the safety and efficacy of onasemnogene abeparvovec gene therapy in symptomatic patients with infantile-onset spinal muscular atrophy. Results showed that patients achieved independent sitting and survival rates without permanent ventilation at certain time points, with a favorable benefit-risk profile supporting the use of onasemnogene abeparvovec for treatment of this condition.

LANCET NEUROLOGY (2021)

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Article Clinical Neurology

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

Tamara Dangouloff et al.

Summary: The study provides a global overview on the current situation and perspectives on SMA NBS, pointing out the differences in funding, screening methods, organization, and consent process between countries. Experts expressed a strong need for the implementation of SMA NBS to improve patient care.

NEUROMUSCULAR DISORDERS (2021)

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Article Genetics & Heredity

The incidence of hydrocephalus among patients with and without spinal muscular atrophy (SMA): Results from a US electronic health records study

Emma Viscidi et al.

Summary: This retrospective analysis using US EHR data found that SMA patients had an approximately fourfold increased risk of hydrocephalus compared with non-SMA controls in the era preceding nusinersen treatment. It suggests the importance of properly evaluating adverse events in nusinersen-treated SMA patients.

ORPHANET JOURNAL OF RARE DISEASES (2021)

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Article Clinical Neurology

Five-Year Extension Results of the Phase 1 START Trial of Onasemnogene Abeparvovec in Spinal Muscular Atrophy

Jerry R. Mendell et al.

Summary: This ongoing study evaluates the long-term safety and effectiveness of onasemnogene abeparvovec gene replacement therapy in infants with SMA type 1. The therapeutic dose showed sustained clinical benefits for patients with no need for permanent ventilation up to 6 years of age.

JAMA NEUROLOGY (2021)

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Article Pediatrics

Advances in the Therapy of Spinal Muscular Atrophy

Jenna Klotz et al.

JOURNAL OF PEDIATRICS (2021)

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Article Clinical Neurology

Nusinersen in pediatric and adult patients with type III spinal muscular atrophy

Maria Carmela Pera et al.

Summary: The study presents longitudinal data on the effects of Nusinersen treatment in 144 pediatric and adult patients with type III SMA. Results showed significant improvements in HFMSE and RULM scores, but not in 6MWT scores. Multivariable analysis indicated that age, gender, baseline value, and functional status significantly contributed to changes in HFMSE scores.

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2021)

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Article Clinical Neurology

Safety Monitoring of Gene Therapy for Spinal Muscular Atrophy with Onasemnogene Abeparvovec - A Single Centre Experience

Johannes Friese et al.

Summary: Treatment with onasemnogene abeparvovec was associated with temporary increase in body temperature and transaminase levels in SMA patients. Close monitoring and adaptation of immunosuppressive regimen helped control the immune response, with some patients experiencing thrombocytopenia and increased monocytes following gene therapy. Liver values and blood counts returned to normal levels post-treatment, suggesting potential for managing adverse events in a broader patient population.

JOURNAL OF NEUROMUSCULAR DISEASES (2021)

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Article Clinical Neurology

European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy

Janbernd Kirschner et al.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2020)

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Review Clinical Neurology

From Clinical Trials to Clinical Practice: Practical Considerations for Gene Replacement Therapy in SMA Type 1

Samiah A. Al-Zaidy et al.

PEDIATRIC NEUROLOGY (2019)

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Article Clinical Neurology

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

Darryl C. De Vivo et al.

NEUROMUSCULAR DISORDERS (2019)

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Meeting Abstract Clinical Neurology

Intrathecal administration of onasemnogene abeparvovec gene-replacement therapy (GRT) for spinal muscular atrophy type 2 (SMA2): phase 1/2a study (STRONG)

R. Finkel et al.

NEUROMUSCULAR DISORDERS (2019)

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Article Clinical Neurology

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

Eugenio Mercuri et al.

NEUROMUSCULAR DISORDERS (2018)

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Article Medicine, General & Internal

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

E. Mercuri et al.

NEW ENGLAND JOURNAL OF MEDICINE (2018)

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Article Orthopedics

Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atrophy

Kevin A. Strauss et al.

JOURNAL OF PEDIATRIC ORTHOPAEDICS (2018)

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Article Clinical Neurology

Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy

Claudia A. Chiriboga et al.

NEUROLOGY (2016)

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Article Neurosciences

Disease Mechanisms and Therapeutic Approaches in Spinal Muscular Atrophy

Sarah Tisdale et al.

JOURNAL OF NEUROSCIENCE (2015)

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Article Clinical Neurology

Observational study of spinal muscular atrophy type I and implications for clinical trials

Richard S. Finkel et al.

NEUROLOGY (2014)

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Article Clinical Neurology

Natural history of denervation in SMA:: Relation to age, SMN2 copy number, and function

KJ Swoboda et al.

ANNALS OF NEUROLOGY (2005)

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