Risdiplam for the Use of Spinal Muscular Atrophy [PDF]
Orthopedic Reviews, 2021 Spinal muscular atrophy (SMA) is one of the leading causes of death in infants related to the degeneration of neurons. Currently, there are no curative treatment options for SMA, and many options available may not be feasible. This review presents the background, clinical studies, and indications for the use of Risdiplam in treating SMA.
Juyeon, Kakazu +7 more
openaire +5 more sources
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study [PDF]
Neurology and Therapy, 2023 Introduction Risdiplam is a survival of motor neuron 2 (SMN2) splicing modifier for the treatment of patients with spinal muscular atrophy (SMA). The JEWELFISH study (NCT03032172) was designed to assess the safety, tolerability, pharmacokinetics (PK ...
Claudia A. Chiriboga +16 more
doaj +5 more sources
Risdiplam in Type 1 Spinal Muscular Atrophy [PDF]
New England Journal of Medicine, 2021 Type 1 spinal muscular atrophy is a rare, progressive neuromuscular disease that is caused by low levels of functional survival of motor neuron (SMN) protein. Risdiplam is an orally administered, small molecule that modifies SMN2 pre-messenger RNA splicing and increases levels of functional SMN protein.We report the results of part 1 of a two-part ...
Baranello, Giovanni +168 more
openaire +11 more sources
A Brand-New Metal Complex Catalyst-Free Approach to the Synthesis of 2,8-Dimethylimidazo[1,2-b]pyridazine-6-Carboxylic Acid—A Key Intermediate in Risdiplam Manufacturing Process [PDF]
MoleculesIn this study, we report for the first time a brand-new protocol for the multigram-scale synthesis of 5-methyl-6-oxo-1,6-dihydropyridazine-3-carboxylic and 2,8-dimethylimidazo[1,2-b]pyridazine-6-carboxylic acids, without the utilization of metal-complex ...
Georgiy Korenev +6 more
doaj +2 more sources
Transforming Spinal Muscular Atrophy: From Pivotal Trials to Real-World Evidence and Future Therapeutic Frontiers in Types 1 and 2 [PDF]
BiomedicinesSpinal muscular atrophy (SMA) is a rare, autosomal recessive neuromuscular disorder and a leading genetic cause of infant mortality. The past decade has witnessed a paradigm shift in SMA management with the advent of disease-modifying drugs (DMDs).
Andrej Belančić +5 more
doaj +2 more sources
Evaluating Therapeutic Outcomes in Spinal Muscular Atrophy: An Indian Experience [PDF]
Annals of Indian Academy of NeurologyBackground and Objectives: Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder that leads to anterior horn cell loss. Recent advancements in disease-modifying therapies (DMTs) offer promising new treatment options.
Smilu Mohanlal +8 more
doaj +2 more sources
Managing Spinal Muscular Atrophy: A Look at the Biology and Treatment Strategies [PDF]
BiologySince its discovery in the late 19th century, spinal muscular atrophy (SMA) has had a significant medical and societal impact, primarily affecting newborns, toddlers, and young adults.
Arianna Vezzoli +2 more
doaj +2 more sources
Longitudinal efficacy of risdiplam treatment in Chinese children with spinal muscular atrophy [PDF]
Orphanet Journal of Rare DiseasesBackground As the latest drug available for the treatment of spinal muscular atrophy (SMA), real-world research data on risdiplam are still lacking. The purpose of this study was to supplement the real-world data in SMA children receiving risdiplam by ...
Yue Yan +10 more
doaj +2 more sources
Risdiplam: therapeutic effects and tolerability in a small cohort of 6 adult type 2 and type 3 SMA patients [PDF]
Orphanet Journal of Rare DiseasesBackground Risdiplam is a validated treatment for adult SMA patients, but clear guidelines concerning functional assessment at baseline and during the follow-up are still limited, especially in terms of sensible and validated outcome measures able to ...
Gianmarco Severa +6 more
doaj +2 more sources
Pioneering SMA therapies for all types: survival gains, cost dynamics, and performance-based agreements [PDF]
Cost Effectiveness and Resource AllocationBackground The purpose of this study was to assess the impact of survival improvements and performance-based managed entry agreements (PBMEAs) on the cost implications of introducing innovative spinal muscular atrophy (SMA) treatments, nusinersen ...
Ahmed Al-jedai +8 more
doaj +2 more sources