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 ...
Isabelle Desguerre +2 more
exaly +7 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
Therapeutic advances in spinal muscular atrophy: a review of clinical, safety, and economic considerations [PDF]
Frontiers in PharmacologySpinal muscular atrophy (SMA) is a genetic neuromuscular disorder caused by insufficient levels of survival motor neuron (SMN) protein due to mutations in the SMN1 gene, leading to progressive degeneration of lower motor neurons in the spinal cord.
Andrej Belančić +3 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).
Yuewei Chi, Yue Qiao
exaly +3 more sources
Comparative Analysis of SMN2 Splicing Activity and Protein Production Following In Vitro Treatment with the Generic Risdiplam Drug Vapromin® and the Reference Drug Evrysdi® [PDF]
BiomedicinesBackground/Objectives: Risdiplam is a low-molecular-weight small-molecule modifier of SMN2 pre-mRNA splicing that was developed for spinal muscular atrophy (SMA) therapy and approved for the treatment of SMA as Evrysdi® (Roche, Basel, Switzerland ...
Olga Strizhakova +12 more
doaj +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
Neurology and TherapyThis Summary of Research summarizes a previously published original article, “Fertility Outcomes in Risdiplam-Treated Male Patients with Spinal Muscular Atrophy: A Multicenter Case Series.” Risdiplam (EVRYSDI®) is a medication approved for the treatment ...
Michael A Lopez
exaly +2 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
Longitudinal Transcriptomic Analysis Reveals Systemic Effects of Risdiplam in Adults with Spinal Muscular Atrophy [PDF]
Brain SciencesBackground: Spinal Muscular Atrophy (SMA) is a neurodegenerative disease caused by reduced survival motor neuron (SMN) protein levels due to SMN1 gene mutations. The natural history of SMA has dramatically changed since innovative therapies were approved;
Maria Liguori +6 more
doaj +2 more sources