Adeno-associated virus as a delivery vector for gene therapy of human diseases

JH Wang, DJ Gessler, W Zhan, TL Gallagher… - Signal transduction and …, 2024‏ - nature.com
Adeno-associated virus (AAV) has emerged as a pivotal delivery tool in clinical gene
therapy owing to its minimal pathogenicity and ability to establish long-term gene expression …

Spinal muscular atrophy

E Mercuri, CJ Sumner, F Muntoni, BT Darras… - Nature Reviews …, 2022‏ - nature.com
Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in
SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads …

Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial

KA Strauss, MA Farrar, F Muntoni, K Saito… - Nature medicine, 2022‏ - nature.com
Abstract SPR1NT (NCT03505099) was a Phase III, multicenter, single-arm study to
investigate the efficacy and safety of onasemnogene abeparvovec for presymptomatic …

Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial

KA Strauss, MA Farrar, F Muntoni, K Saito… - Nature medicine, 2022‏ - nature.com
Most children with biallelic SMN1 deletions and three SMN2 copies develop spinal muscular
atrophy (SMA) type 2. SPR1NT (NCT03505099), a Phase III, multicenter, single-arm trial …

rAAV immunogenicity, toxicity, and durability in 255 clinical trials: A meta-analysis

W Shen, S Liu, L Ou - Frontiers in immunology, 2022‏ - frontiersin.org
Recombinant Adeno-associated virus (rAAV) is one of the main delivery vectors for gene
therapy. To assess immunogenicity, toxicity, and features of AAV gene therapy in clinical …

[HTML][HTML] AAV vectors applied to the treatment of CNS disorders: Clinical status and challenges

L Kang, S **, J Wang, Z Lv, C **n, C Tan… - Journal of Controlled …, 2023‏ - Elsevier
In recent years, adeno-associated virus (AAV) has become the most important vector for
central nervous system (CNS) gene therapy. AAV has already shown promising results in …

Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

R Masson, M Mazurkiewicz-Bełdzińska… - The Lancet …, 2022‏ - thelancet.com
Background Risdiplam is an orally administered therapy that modifies pre-mRNA splicing of
the survival of motor neuron 2 (SMN2) gene and is approved for the treatment of spinal …

[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 …

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

G Thomsen, AHM Burghes, C Hsieh, J Do, BTT Chu… - Nature medicine, 2021‏ - nature.com
Spinal muscular atrophy type 1 (SMA1) is a debilitating neurodegenerative disease resulting
from survival motor neuron 1 gene (SMN1) deletion/mutation. Onasemnogene abeparvovec …

The potential revolution of cancer treatment with CRISPR technology

D Stefanoudakis, N Kathuria-Prakash, AW Sun, M Abel… - Cancers, 2023‏ - mdpi.com
Simple Summary Clustered regularly interspaced short palindromic repeats (CRISPR)-
CRISPR associated protein (Cas) 9 is a novel technology utilized to modify target genes …