New and developing therapies in spinal muscular atrophy: from genotype to phenotype to treatment and where do we stand?
TH Chen - International journal of molecular sciences, 2020 - mdpi.com
Spinal muscular atrophy (SMA) is a congenital neuromuscular disorder characterized by
motor neuron loss, resulting in progressive weakness. SMA is notable in the health care …
motor neuron loss, resulting in progressive weakness. SMA is notable in the health care …
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 …
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 …
atrophy (SMA) type 2. SPR1NT (NCT03505099), a Phase III, multicenter, single-arm trial …
Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go
Spinal muscular atrophy (SMA) is a rare and devastating disease. New disease-modifying
treatments have recently been approved and early treatment has been related to a better …
treatments have recently been approved and early treatment has been related to a better …
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years
K Vill, O Schwartz, A Blaschek, D Gläser… - Orphanet journal of rare …, 2021 - Springer
Background Spinal muscular atrophy (SMA) is the most common neurodegenerative
disease in childhood. Since motor neuron injury is usually not reversible, early diagnosis …
disease in childhood. Since motor neuron injury is usually not reversible, early diagnosis …
Perspectives of rare disease experts on newborn genome sequencing
Importance Newborn genome sequencing (NBSeq) can detect infants at risk for treatable
disorders currently undetected by conventional newborn screening. Despite broad …
disorders currently undetected by conventional newborn screening. Despite broad …
Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments
Background Spinal muscular atrophy (SMA) is a rare and devastating condition for which
new disease-modifying treatments have recently been approved. Given the increasing …
new disease-modifying treatments have recently been approved. Given the increasing …
Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA
L Kong, DO Valdivia, CM Simon… - Science translational …, 2021 - science.org
Gene replacement and pre-mRNA splicing modifier therapies represent breakthrough gene
targeting treatments for the neuromuscular disease spinal muscular atrophy (SMA), but …
targeting treatments for the neuromuscular disease spinal muscular atrophy (SMA), but …
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 …