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 ...
Marleen van den Hauwe +2 more
exaly +7 more sources
A Convenient, Pd-Free Approach to the Synthesis of Risdiplam
MoleculesSeveral approaches to the synthesis of risdiplam, a pharmacologically relevant pyridopyrimidinone derivative, have been recently reported. However, most of these routes rely exclusively on palladium-catalyzed, cross-coupling reactions and involve low ...
Georgiy Korenev +7 more
doaj +4 more sources
Case Report: Presymptomatic risdiplam in preterm monozygotic twins with co-occurring spinal muscular atrophy and tuberous sclerosis complex [PDF]
Frontiers in GeneticsBackgroundSpinal muscular atrophy (SMA) and tuberous sclerosis complex (TSC) are both rare genetic disorders, and their co-occurrence is expected to be exceptionally uncommon.
Xiao-fang Zhang +4 more
doaj +2 more sources
Risdiplam treatment in adults with spinal muscular atrophy: a single-center, real-world study [PDF]
BMC NeurologyBackground Spinal muscular atrophy (SMA) is a progressive, degenerative neuromuscular disease caused by mutations in the survival motor neuron 1 (SMN1) gene leading to muscle weakness and respiratory impairments.
Lea Leonardis +3 more
doaj +2 more sources
Brain Sciences, 2023 Objective: We performed a systematic review and meta-analysis of the efficacy and safety of nusinersen and risdiplam in the treatment of spinal muscular disease (SMA).
Yue Qiao, Yuewei Chi, Jian Gu, Ying Ma
exaly +3 more sources
Maternal-Fetal Administration of Risdiplam Partially Rescues the SMNΔ7 Mouse Model of Spinal Muscular Atrophy. [PDF]
Ann NeurolObjective Spinal muscular atrophy (SMA) is caused by deletions or mutations in the survival motor neuron 1 (SMN1) gene and subsequent reduction in the expression of survival motor neuron (SMN) protein. The disease is characterized by degeneration of α motor neurons and subsequent muscle atrophy.
Sutton ER +4 more
europepmc +2 more sources
Adherence, Persistence, and Safety of Risdiplam in Spinal Muscular Atrophy: A Population-Based Cohort Study [PDF]
Neurology and TherapyIntroduction Spinal muscular atrophy (SMA) is a rare neuromuscular disorder caused by biallelic SMN1 variants, partially modulated by SMN2 copy number. Risdiplam, an oral SMN2 splicing modifier, has demonstrated efficacy in SMA.
Maria Chovi-Trull +8 more
doaj +2 more sources
Effect of mild or moderate hepatic impairment on the pharmacokinetics of risdiplam
British Journal of Clinical Pharmacology, 2022 AimThis phase I, multicentre, open‐label, nonrandomised, parallel‐group, two‐part study aimed to evaluate the effect of mild to moderate hepatic impairment on the pharmacokinetics (PK), safety and tolerability of a single oral dose of risdiplam.MethodsAdult subjects (aged 18‐70 years) with mild (Child‐Pugh Class A; Part 1) or moderate (Child‐Pugh Class
Heidemarie Kletzl
exaly +3 more sources
Treatment of risdiplam after nusinersen continuously improves upper limb motor function in spinal muscular atrophy patients: a multicenter experience [PDF]
Frontiers in PediatricsIntroductionSome individuals with spinal muscular atrophy (SMA) transition from nusinersen to risdiplam during disease-modifying therapy (DMT) due to factors such as treatment convenience, economic considerations, and adverse events (AEs).
Xi Cheng +6 more
doaj +2 more sources
Effectiveness and safety of Risdiplam for types 1–3 spinal muscular atrophy in a single center [PDF]
BMC NeurologyBackground Risdiplam has demonstrated efficacy in various types of 5q-spinal muscular atrophy (SMA) during clinical trials, yet real-world data remain limited.
Xiaomei Zhu +6 more
doaj +2 more sources