Results 71 to 80 of about 3,107 (205)

Onasemnogene abeparvovec preserves bulbar function in infants with presymptomatic spinal muscular atrophy: a post-hoc analysis of the SPR1NT trial [PDF]

, 2023
Bulbar function in spinal muscular atrophy has been defined as the ability to meet nutritional needs by mouth while maintaining airway protection and communicate verbally. The effects of disease-modifying treatment on bulbar function are not clear.
Baranello, G, Darras, BT, Hurst-Davis, R, LaMarca, N, Lavrov, A, McGrattan, KE, O'Brien, E, Reyna, SP, Shell, RD, Wallach, S, Young, SD   +10 more
core  

2024 update: European consensus statement on gene therapy for spinal muscular atrophy. [PDF]

Spinal muscular atrophy (SMA) is one of the most common genetic diseases and was, until recently, a leading genetic cause of infant mortality. Three disease-modifying treatments have dramatically changed the disease trajectories and outcome for severely ...
Bernert, Günther, Butoianu, Nina, De Waele, Liesbeth, Fattal-Valevski, Aviva, Haberlova, Jana, Kirschner, Janbernd, Klein, Andrea, Kostera-Pruszczyk, Anna, Mercuri, Eugenio, Moreno, Teresa, Muntoni, Francesco, Pol, Ludo van der, Quijano‐Roy, Susana, Sejersen, Thomas, Servais, Laurent, Tizzano, Eduardo F., Wallace, Sean, Zafeiriou, Dimitrios, Ziegler, Andreas, Ziegler, Andreas   +19 more
core   +6 more sources

Diverging Safety Signals: A Trend Analysis of Suspected Adverse Drug Reactions Reporting for Spinal Muscular Atrophy Therapies in the European Union

Neurology International
Background/Objectives: The approval of disease-modifying therapies has significantly improved outcomes for patients with spinal muscular atrophy (SMA), yet their long-term safety profiles remain under continuous evaluation.
Andrej Belančić, Petar Mas, Ivana Stević, Dinko Vitezić, Slobodan Janković   +4 more
doaj   +1 more source

Patients’ access to rare neuromuscular disease therapies varies across US private insurers

Orphanet Journal of Rare Diseases, 2022
Background The extent to which different US private insurers require their enrollees to meet the same coverage criteria before gaining access to treatment is unclear.
Nikoletta M. Margaretos, Komal Bawa, Natalie J. Engmann, James D. Chambers   +3 more
doaj   +1 more source

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

Optimization of pharmaceutical research and development by early‐phase assessment of investigational medicinal products

British Journal of Clinical Pharmacology, EarlyView.
Small and mid‐sized pharmaceutical innovators often have limited in‐house health economics and market access expertise, and may struggle to align development strategies of investigational medicinal products with health system needs and payer expectations.
Zoltán Kaló, Attila Imre, Gábor Varga, Sándor Kovács, György Tímár, Balázs Nagy   +5 more
wiley   +1 more source

Proximal spinal muscular atrophy 5q in the Republic of North Ossetia – Alania: population-genetic features, diagnostic problems and treatment prospects

Нервно-мышечные болезни, 2022
This study presents the structure and population data of spinal muscular atrophy 5q in the Republic of North Ossetia – Alania. The number of newborns for the period 2000–2020 was 195 954, and the prevalence of spinal muscular atrophy 5q among newborns ...
I. S. Tebieva, A. F. Murtazina, S. B. Artemieva, Yu. V. Gabisova, R. A. Zinchenko   +4 more
doaj   +1 more source

Cost‐utility analysis of nusinersen–risdiplam switch in patients with spinal muscular atrophy in Croatia: A discrete event simulation model

British Journal of Clinical Pharmacology, EarlyView.
Introduction In recent years, the treatment of spinal muscular atrophy (SMA), a rare disease, has significantly progressed, improving patients' survival and overall quality of life. However, current SMA treatments are expensive, and some (nusinersen) are very inconvenient for patients.
Andrej Belančić, Ivana Stević, Elvira Meni Maria Gkrinia, Dinko Vitezić, Slobodan Janković   +4 more
wiley   +1 more source

Subacute liver injury in two young infants following gene replacement therapy for spinal muscular atrophy

Molecular Therapy: Methods & Clinical Development
Spinal muscular atrophy is a neurodegenerative disorder resulting from the irreversible loss of anterior horn cells secondary to homozygous mutations in the survival motor neuron gene SMN1.
Cassie Ables, Catalina Jaramillo, E. Lynne Wood, Sara Stern, Mouied Alashari, Linda Book, Russell J. Butterfield   +6 more
doaj   +1 more source

Cost, pricing and value of medicines:Adequate and sustainable access to innovative pharmaceutical products [PDF]

This thesis addresses the crossroads between pharmaceutical innovation, pricing of medicine, and health system sustainability. Part 1 of this thesis analyses the current state of research and development costs, pricing and value of medicine are assessed ...
van der Schans, Simon
core   +1 more source