Assessing and advancing the safety of CRISPR-Cas tools: from DNA to RNA editing
CRISPR-Cas gene editing has revolutionized experimental molecular biology over the past
decade and holds great promise for the treatment of human genetic diseases. Here we …
decade and holds great promise for the treatment of human genetic diseases. Here we …
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 …
investigate the efficacy and safety of onasemnogene abeparvovec for presymptomatic …
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 …
therapy owing to its minimal pathogenicity and ability to establish long-term gene expression …
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 …
in children (two SMN2 copies, n= 15; three SMN2 copies, n= 10) who initiated treatment in …
Spinal muscular atrophy: the past, present, and future of diagnosis and treatment
H Nishio, ETE Niba, T Saito, K Okamoto… - International Journal of …, 2023 - mdpi.com
Spinal muscular atrophy (SMA) is a lower motor neuron disease with autosomal recessive
inheritance. The first cases of SMA were reported by Werdnig in 1891. Although the …
inheritance. The first cases of SMA were reported by Werdnig in 1891. Although the …
Spinal muscular atrophy treatment in patients identified by newborn screening—a systematic review
K Aragon-Gawinska, C Mouraux, T Dangouloff… - Genes, 2023 - mdpi.com
Background: In spinal muscular atrophy, clinical trial results indicated that disease-modifying
treatments are highly effective when given prior to symptom onset, which has prompted …
treatments are highly effective when given prior to symptom onset, which has prompted …
Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study
DS Kariyawasam, AM D'Silva, H Sampaio… - The Lancet Child & …, 2023 - thelancet.com
Background In light of a new therapeutic era for spinal muscular atrophy (SMA), newborn
screening has been proposed as a gateway to facilitate expedient diagnosis and access to …
screening has been proposed as a gateway to facilitate expedient diagnosis and access to …
Onasemnogene Abeparvovec: A review in spinal muscular atrophy
HA Blair - Cns Drugs, 2022 - Springer
Onasemnogene abeparvovec (Zolgensma®) is a gene therapy approved for the treatment of
spinal muscular atrophy (SMA). Administered as a one-time intravenous infusion …
spinal muscular atrophy (SMA). Administered as a one-time intravenous infusion …
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from …
Background Efficacy and safety of onasemnogene abeparvovec (OA) for Spinal Muscular
Atrophy infants under 7 months and< 8.5 kg has been reported in clinical trials. This study …
Atrophy infants under 7 months and< 8.5 kg has been reported in clinical trials. This study …