Results 81 to 90 of about 2,204 (179)

Real-World Data in Children with Spinal Muscular Atrophy Type 1 on Long-Term Ventilation Receiving Gene Therapy: A Prospective Cohort Study

open access: yesAdvances in Respiratory Medicine
Patients with spinal muscular atrophy type 1 (SMA-1) requiring invasive ventilation can be eligible for gene therapy if they tolerate at least 8 h off ventilation per day.
Mohammad Ala’ Alajjuri   +3 more
doaj   +1 more source

Engineering Targeted Gene Delivery Systems for Primary Hereditary Skeletal Myopathies: Current Strategies and Future Perspectives

open access: yesBiomedicines
Skeletal muscle, constituting ~40% of body mass, serves as a primary effector for movement and a key metabolic regulator through myokine secretion. Hereditary myopathies, including dystrophinopathies (DMD/BMD), limb–girdle muscular dystrophies (LGMD ...
Jiahao Wu   +4 more
doaj   +1 more source

Improved gene therapy for spinal muscular atrophy in mice using codon-optimized hSMN1 transgene and hSMN1 gene-derived promotor

open access: yesEMBO Molecular Medicine
Physiological regulation of transgene expression is a major challenge in gene therapy. Onasemnogene abeparvovec (Zolgensma®) is an approved adeno-associated virus (AAV) vector gene therapy for infants with spinal muscular atrophy (SMA), however, adverse ...
Qing Xie   +16 more
doaj   +1 more source

Custo-efetividade do Zolgensma® na América Latina: uma revisão da literatura

open access: yesCONTRIBUCIONES A LAS CIENCIAS SOCIALES
O objetivo deste trabalho foi sumarizar estudos farmacoeconômicos de custo-efetividade do tratamento farmacológico da atrofia muscular espinhal (AME) tipo I, em pacientes até dois anos de idade com o medicamento Zolgensma®, em países da América Latina (AL). Realizou-se uma busca na literatura científica, entre o período de janeiro de 2019 a dezembro de
Virgínia de Castro Rodrigues   +2 more
openaire   +1 more source

Zugangsgerechtigkeit von Therapien für seltene Erkrankungen: Eine ethische Analyse am Beispiel der spinalen Muskelatrophie [PDF]

open access: yes
Diese Bachelorarbeit untersucht die Zugangsgerechtigkeit von Therapien für seltene Erkrankungen, fokussiert auf die spinale Muskelatrophie (SMA) und das Medikament Zolgensma.
Peters, Helen
core   +1 more source

Motor and neurocognitive profiles of children with symptomatic spinal muscular atrophy type 1 with two copies of SMN2 before and after treatment: a longitudinal observational study

open access: yesFrontiers in Neurology
IntroductionSpinal muscular atrophy (SMA) is a neurodegenerative disease caused by mutations in the survival motor neuron 1 (SMN1) gene. In clinical studies, gene replacement therapy with onasemnogene abeparvovec (formerly AVXS-101, Zolgensma®, Novartis)
Ilaria Bitetti   +3 more
doaj   +1 more source

Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational studyResearch in context

open access: yesThe Lancet Regional Health. Europe
Summary: Background: Real-world data on gene addition therapy (GAT) with onasemnogene abeparvovec (OA), including all age groups and with or without symptoms of the disease before treatment are needed to provide families with evidence-based advice and ...
Claudia Weiß   +308 more
doaj   +1 more source

Onasemnogene abeparvovec (Zolgensma®) for the treatment of spinal muscular atrophy: A Protocol for Systematic Review

open access: yes
This project contains the protocol, search strategies, study selection materials, data extraction forms, risk-of-bias assessments, GRADE evidence profiles, PRISMA flow diagram, and manuscript files for a rapid systematic review and health technology ...
LINA SOFIA MORON DUARTE   +4 more
core   +1 more source

PE-094 O acordo de acesso gerenciado do onasemnogeno abeparvoveque trará economia para o Sistema Único de Saúde (SUS)? Uma análise de impacto orçamentário

open access: yesJornal de Assistência Farmacêutica e Farmacoeconomia
Introdução (com objetivo): Em março de 2025, foi formalizado um Acordo de Acesso Gerenciado (AAG)  entre o Ministério da Saúde e a empresa detentora do registro do onasemnogeno abeparvoveque (OA) para o tratamento de pacientes com Atrofia Muscular ...
Camila Felix Fortis   +4 more
doaj   +1 more source

Variation in Health Technology Assessment recommendations and reimbursement of Advanced Therapy Medicinal Products across nine european countries

open access: yesDiscover Health Systems
Background Advanced Treatment Medicinal Products (ATMPs) are innovative treatments aimed at severe diseases. However, patient access varies across European countries. The present research reviews the reimbursement status of the licensed ATMPs in England,
Paraskevi M. Georgiou   +1 more
doaj   +1 more source
spinal muscular atrophy
gene therapy
nusinersen
onasemnogene abeparvovec
sma
risdiplam
newborn screening
aav
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