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Commentary: Current Status of Gene Therapy for Spinal Muscular Atrophy

FRONTIERS IN CELLULAR NEUROSCIENCE (2022)

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Article Pediatrics

Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study

Claudia Weiss et al.

Summary: This study provides real-world data on motor function and safety after gene replacement therapy in different patient subgroups. The results indicate that children with spinal muscular atrophy aged 24 months or younger and patients pretreated with nusinersen significantly benefit from gene replacement therapy, but adverse events can be severe and need to be closely monitored.

LANCET CHILD & ADOLESCENT HEALTH (2022)

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Article Biochemistry & Molecular Biology

SMN protein is required throughout life to prevent spinal muscular atrophy disease progression

Xin Zhao et al.

Summary: Spinal muscular atrophy is caused by the loss of SMN1 gene function, with partial compensation from the SMN2 gene but insufficient SMN protein levels due to alternative splicing. New drugs like risdiplam can increase SMN protein levels and provide treatment for SMA patients. Early treatment initiation is crucial, as SMN protein is essential throughout the lifespan in mice.

HUMAN MOLECULAR GENETICS (2022)

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Article Clinical Neurology

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial

Eugenio Mercuri et al.

Summary: The STR1VE-EU study evaluated the safety and efficacy of onasemnogene abeparvovec gene replacement therapy in infants with spinal muscular atrophy type 1, showing effectiveness in symptomatic patients and a favorable benefit-risk profile for this patient population. Further long-term safety studies are needed.

LANCET NEUROLOGY (2021)

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Article Biochemistry & Molecular Biology

Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue

Gretchen Thomsen et al.

Summary: Biodistribution analysis of two patients with spinal muscular atrophy shows widespread onasemnogene abeparvovec DNA, mRNA and SMN protein throughout the central nervous system and peripheral organs following intravenous gene therapy administration. Both patients experienced varying outcomes after receiving the treatment, including improved motor function in one patient and death in the other shortly after administration. The study demonstrates effective distribution, transduction, and expression of onasemnogene abeparvovec throughout the CNS, supporting its potential for restoring SMN expression in individuals with SMA1.

NATURE MEDICINE (2021)

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Article Biochemistry & Molecular Biology

Spinal muscular atrophy: Broad disease spectrum and sex-specific phenotypes

Natalia N. Singh et al.

Summary: Spinal muscular atrophy (SMA) is a major genetic disorder associated with infant mortality, primarily caused by deletions or mutations in the Survival Motor Neuron 1 (SMN1) gene. The spectrum of SMA ranges from prenatal death to survival into adulthood, with all tissues potentially affected.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2021)

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Article Neurosciences

A Multifaceted Approach to Optimizing AAV Delivery to the Brain for the Treatment of Neurodegenerative Diseases

Jonathan M. Fischell et al.

Summary: Despite significant progress in gene therapy technologies, there are currently no approved gene therapies specifically for brain diseases, mainly due to the presence of the blood-brain barrier (BBB). Various approaches, including direct intracerebral injection of vectors, have limitations. Innovative methods are needed to enhance the efficiency of gene delivery to the brain.

FRONTIERS IN NEUROSCIENCE (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 Neurosciences

Gain of toxic function by long-term AAV9-mediated SMN overexpression in the sensorimotor circuit

Meaghan Van Alstyne et al.

Summary: This study demonstrates that long-term use of AAV9-SMN gene therapy in mice can lead to motor dysfunction and neuronal loss through protein aggregation. Overexpression of SMN interferes with RNA regulation and triggers SMA-like pathogenic events through toxic gain-of-function mechanisms. These findings suggest caution in the long-term safety of treating individuals with SMA with AAV9-SMN.

NATURE NEUROSCIENCE (2021)

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Review Genetics & Heredity

Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next

Brunhilde Wirth et al.

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 21, 2020 (2020)

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Review Pharmacology & Pharmacy

RNA in spinal muscular atrophy: therapeutic implications of targeting

Ravindra N. Singh et al.

EXPERT OPINION ON THERAPEUTIC TARGETS (2020)

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Article Biochemistry & Molecular Biology

Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy

Anna A. L. Motyl et al.

HUMAN MOLECULAR GENETICS (2020)

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Review Neurosciences

The First Orally Deliverable Small Molecule for the Treatment of Spinal Muscular Atrophy

Ravindra N. Singh et al.

NEUROSCIENCE INSIGHTS (2020)

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Article Cell Biology

MicroRNA-mediated inhibition of transgene expression reduces dorsal root ganglion toxicity by AAV vectors in primates

Juliette Hordeaux et al.

SCIENCE TRANSLATIONAL MEDICINE (2020)

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Article Clinical Neurology

AVXS-101 (Onasemnogene Abeparvovec) for SMA 1: Comparative Study with a Prospective Natural History Cohort

Samiah A. Al-Zaidy et al.

JOURNAL OF NEUROMUSCULAR DISEASES (2019)

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Article Biotechnology & Applied Microbiology

Severe Toxicity in Nonhuman Primates and Piglets Following High-Dose Intravenous Administration of an Adeno-Associated Virus Vector Expressing Human SMN

Christian Hinderer et al.

HUMAN GENE THERAPY (2018)

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Review Biochemistry & Molecular Biology

How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy

N. N. Singh et al.

GENE THERAPY (2017)

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Review Biochemistry & Molecular Biology

Diverse role of survival motor neuron protein

Ravindra N. Singh et al.

BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS (2017)

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