Results 31 to 40 of about 2,038 (184)
Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification [PDF]
, 2023 Spinal muscular atrophyAtròfia muscular espinalAtrofia muscular espinalWe sought to devise a rational, systematic approach for defining/grouping survival motor neuron-targeted disease-modifying treatment (DMT) scenarios.
De Vivo, Darryl +6 more
core +4 more sources
Orphanet Journal of Rare Diseases, 2022 Background The oral, selective SMN2-splicing modifier risdiplam obtained European approval in March 2021 for the treatment of patients ≥ 2 months old with a clinical diagnosis of 5q-associated spinal muscular atrophy (SMA) 1/2/3 or with 1–4 SMN2 gene ...
Andreas Hahn +10 more
doaj +1 more source
INNOVATIVE THERAPIES IN GENETIC DISEASES: SPINAL MUSCULAR ATROPHY [PDF]
Romanian Journal of Pediatrics, 2021 Spinal muscular atrophy is a congenital neuromuscular disease characterized by the deterioration of the motor neurons located mainly in the anterior horns of the spinal cord, leading to progressive muscle weakness and atrophy.
Elena-Silvia Shelby, Andrada Mirea
doaj +1 more source
Brain Sciences, 2023 Spinal muscular atrophy (SMA) is a rare neuromuscular disease, with an estimated incidence of about 1 in 10,000 live births. To date, three orphan drugs have been approved for the treatment of SMA: nusinersen, onasemnogene abeparvovec, and risdiplam. The
Salvatore Crisafulli +4 more
doaj +1 more source
Frontiers in Neurology, 2022 Spinal muscular atrophy (SMA) is a rare genetic disease that results in progressive neuromuscular weakness. Without therapy, the most common form of the disease, type 1, typically results in death or chronic respiratory failure in the first 2 years of ...
Carmen Leon-Astudillo +2 more
doaj +1 more source
Process for the preparation of amorphous form of Risdiplam [PDF]
, 2023 The present application relates to a process for the preparation of an amorphous of 7-(4,7-diazaspiro[2.5]octan-7-yl)-2-(2,8-dimethylimidazo[1,2-b]pyridazin-6-yl)pyrido-4H-[1,2-a]pyrimidin-4-one formula-1.
, Srinivasan Thirumalai Rajan
core +1 more source
Process for the preparation of Risdiplam and its intermediates [PDF]
, 2022 The present application relates to a process for the preparation of 7-(4,7-diazaspiro[2.5]octan-7-yl)-2-(2,8-dimethylimidazo[1,2-b]pyridazin-6-yl)pyrido-4H-[1,2-a]pyrimidin-4-one of formula-1 and its intermediate compounds.
, Srinivasan Thirumalai Rajan
core +1 more source
Bridging the Gap : Gene Therapy in a Spinal Muscular Atrophy Type 1 Patient [PDF]
, 2022 Molecular therapies exploit understanding of pathogenic mechanisms to reconstitute impaired gene function or manipulate flawed RNA expression. These therapies include 1) RNA interference by antisense oligonucleotides, 2) mRNA modification using small ...
Corti, Stefania +3 more
core +1 more source
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study [PDF]
, 2022 Background: ANCHOVY was a global, multicenter, chart-review study that aimed to describe the natural history of Type 1 spinal muscular atrophy (SMA) from a broad geographical area and provide further contextualization of results from the FIREFISH ...
Cances, Claude +13 more
core +1 more source
Canadian Journal of Health Technologies, 2021 CADTH recommends that Evrysdi should be reimbursed by public drug plans for the treatment of spinal muscular atrophy (SMA) in patients aged 2 months and older, if certain conditions are met. Evrysdi should only be reimbursed if the patient is under the care of a specialist with experience in the diagnosis and management of SMA, it is not ...
openaire +3 more sources