Spinal muscular atrophy: from approved therapies to future therapeutic targets for personalized medicine

H Chaytow, KME Faller, YT Huang… - Cell Reports Medicine, 2021‏ - cell.com
Spinal muscular atrophy (SMA) is a devastating childhood motor neuron disease that, in the
most severe cases and when left untreated, leads to death within the first two years of life …

Antisense oligonucleotide therapies for neurodegenerative diseases

CF Bennett, AR Krainer… - Annual review of …, 2019‏ - annualreviews.org
Antisense oligonucleotides represent a novel therapeutic platform for the discovery of
medicines that have the potential to treat most neurodegenerative diseases. Antisense …

Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of the NURTURE study

TO Crawford, KJ Swoboda, DC De Vivo… - Muscle & …, 2023‏ - Wiley Online Library
Abstract Introduction/Aims NURTURE (NCT02386553) is an open‐label study of nusinersen
in children (two SMN2 copies, n= 15; three SMN2 copies, n= 10) who initiated treatment in …

Twenty-five years of spinal muscular atrophy research: from phenotype to genotype to therapy, and what comes next

B Wirth, M Karakaya, MJ Kye… - Annual review of …, 2020‏ - annualreviews.org
Twenty-five years ago, the underlying genetic cause for one of the most common and
devastating inherited diseases in humans, spinal muscular atrophy (SMA), was identified …

Spinal muscular atrophy—insights and challenges in the treatment era

E Mercuri, MC Pera, M Scoto, R Finkel… - Nature Reviews …, 2020‏ - nature.com
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by
deletion or mutation of SMN1. Four subtypes exist, characterized by different clinical …

Improved gene therapy for spinal muscular atrophy in mice using codon-optimized hSMN1 transgene and hSMN1 gene-derived promotor

Q **e, X Chen, H Ma, Y Zhu, Y Ma… - EMBO Molecular …, 2024‏ - embopress.org
Physiological regulation of transgene expression is a major challenge in gene therapy.
Onasemnogene abeparvovec (®) is an approved adeno-associated virus (AAV) vector gene …

Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis

G Coratti, C Cutrona, MC Pera, F Bovis… - Orphanet Journal of …, 2021‏ - Springer
Background There is an increasing number of papers reporting the real world use of
Nusinersen in different cohorts of SMA patients. Main body The aim of this paper was to …

Clinical evidence supporting early treatment of patients with spinal muscular atrophy: current perspectives

T Dangouloff, L Servais - Therapeutics and clinical risk …, 2019‏ - Taylor & Francis
Recent advances in the treatment of spinal muscular atrophy (SMA) have dramatically
altered prognosis. Rather than a rapidly lethal disease, SMA type 1, the most severe form …

[HTML][HTML] Mid-and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec …

J Erdos, C Wild - European Journal of Paediatric Neurology, 2022‏ - Elsevier
Objectives This systematic review aimed to assess mid-and long-term (at least 12 months)
real-world study data from all types of spinal muscular atrophy (SMA) patients treated with …

Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3

L Maggi, L Bello, S Bonanno, A Govoni… - Journal of Neurology …, 2020‏ - jnnp.bmj.com
Objective To retrospectively investigate safety and efficacy of nusinersen in a large cohort of
adult Italian patients with spinal muscular atrophy (SMA). Methods Inclusion criteria were:(1) …