Results 31 to 40 of about 2,204 (179)

Intravenous immunoglobulin prevents peripheral liver transduction of intrathecally delivered AAV vectors

Molecular Therapy: Methods & Clinical Development, 2022
Gene therapy using neurotropic adeno-associated virus vectors represents an emerging solution for genetic disorders affecting the central nervous system. The first approved central nervous system-targeting adeno-associated virus gene therapy, Zolgensma®,
Makoto Horiuchi, Christian J. Hinderer, Jenny A. Greig, Cecilia Dyer, Elizabeth L. Buza, Peter Bell, Jessica A. Chichester, Peter M. Hayashi, Hanying Yan, Tamara Goode, James M. Wilson   +10 more
doaj   +1 more source

Treatment of spinal muscular atrophy with Onasemnogene Abeparvovec in Switzerland: a prospective observational case series study

BMC Neurology, 2023
Background Spinal muscular atrophy (SMA) is a rare neuromuscular disorder leading to early death in the majority of affected individuals without treatment.
Georg M. Stettner, Oswald Hasselmann, Anne Tscherter, Elea Galiart, David Jacquier, Andrea Klein   +5 more
doaj   +1 more source

Newborn screening program and advanced therapies as a chance for the youngest patients – based on spinal muscular atrophy (SMA)

Pielęgniarstwo XXI Wieku, 2023
NEWBORN SCREENING PROGRAM AND ADVANCED THERAPIES AS A CHANCE FOR THE YOUNGEST PATIENTS – BASED ON SPINAL MUSCULAR ATROPHY (SMA) Introduction. Newborn screening programs, commonly conducted, are prophylactic procedures with the aim to detect serious ...
Martyna Agnieszka Śliwińska, Anna Rakuś-Kwiatosz   +1 more
doaj   +1 more source

Overcoming the Challenges Imposed by Humoral Immunity to AAV Vectors to Achieve Safe and Efficient Gene Transfer in Seropositive Patients

Frontiers in Immunology, 2022
One of the major goals of in vivo gene transfer is to achieve long-term expression of therapeutic transgenes in terminally differentiated cells. The extensive clinical experience and the recent approval of Luxturna® (Spark Therapeutics, now Roche) and ...
David-Alexandre Gross, David-Alexandre Gross, Novella Tedesco, Novella Tedesco, Christian Leborgne, Christian Leborgne, Giuseppe Ronzitti, Giuseppe Ronzitti   +7 more
doaj   +1 more source

Real-world effectiveness of gene therapy Zolgensma® (Onasemnogene Abeparvovec-xioi) for the treatment of Spinal Muscular Atrophy (SMA)

, 2021
Tese de mestrado, Regulação e Avaliação do Medicamento e Produtos de Saúde, 2021, Universidade de Lisboa, Faculdade de FarmáciaA Atrofia Muscular Espinal (AME) é a principal causa genética de mortalidade infantil com uma incidência de aproximadamente 1 ...
Figueiredo, Ana Cristina Martins de
core   +3 more sources

Spinal muscular atrophy as a blueprint for precision therapy in neuromuscular disease

Expert Reviews in Molecular Medicine
Background Spinal Muscular Atrophy (SMA) is caused by a deficiency of the survival motor neuron (SMN) protein due to loss of SMN1 and inefficient compensation by SMN2. This genetic architecture has driven the development of precision therapeutics.
Busra Cetin, Melike Aliciaslan, Ezgi Erbasan, Busra Cesur Ergun, Salih Sanlioglu   +4 more
doaj   +1 more source

Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo, Claudia Dosi, Stefano Parravicini, Riccardo Zanin, Marta Cheli, Eleonora Giacopuzzi Grigoli, Amalia Canciello, Francesca Andreetta, Riccardo Masson, Silvia Bonanno, Stefania Marcuzzo, Lorenzo Maggi   +11 more
wiley   +1 more source

Novos desafios na avaliação de tecnologias em saúde (ATS): o caso Zolgensma

Ciência & Saúde Coletiva, 2023
Resumo As doenças raras ou órfãs entraram de modo importante nos negócios da indústria farmacêutica. Por outro lado, o impacto das novas tecnologias derivadas da pesquisa genômica vêm tendo presença crescente nessa indústria, com novos medicamentos sendo lançados no mercado a preços não sustentáveis para sistemas de saúde e pacientes.
openaire   +2 more sources

Sequential treatment with nusinersen, Zolgensma® and risdiplam in a paediatric patient with spinal muscular atrophytype 1: a case report.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2023
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that causes muscle atrophy and weakness. While no specific therapies existed until a few years ago, several effective disease-modifying treatments have become available in recent years.
Bitetti, Ilaria, Manna, Maria Rosaria, Stella, Roberto, Varone, Antonio   +3 more
openaire   +2 more sources

Switching disease‐modifying therapies in patients with spinal muscular atrophy: A systematic review on effectiveness outcomes

British Journal of Clinical Pharmacology, EarlyView.
With multiple disease‐modifying therapies now available, treatment switching has become an important clinical consideration in the management of spinal muscular atrophy (SMA). While some switches are prompted by suboptimal clinical response, more commonly they are driven by treatment burden, convenience, or adverse events.
Andrej Belančić, Elvira Meni Maria Gkrinia, Patrick Eustaquio, Andrea Katrin Faour, Dinko Vitezić   +4 more
wiley   +1 more source