Results 61 to 70 of about 2,700 (197)

Bridging the Gap : Gene Therapy in a Spinal Muscular Atrophy Type 1 Patient [PDF]

, 2022
Molecular therapies exploit understanding of pathogenic mechanisms to reconstitute impaired gene function or manipulate flawed RNA expression. These therapies include 1) RNA interference by antisense oligonucleotides, 2) mRNA modification using small ...
Corti, Stefania, Costamagna, Gianluca, Govoni, Alessandra, Wise, Adina   +3 more
core   +1 more source

Thrombotic microangiopathy following onasemnogene abeparvovec for spinal muscular atrophy: A case series [PDF]

, 2021
Spinal muscular atrophy is treated with onasemnogene abeparvovec, which replaces the missing survival motor neuron 1 gene via an adeno-associated virus vector.
Arya, Kapil, Chand, Deepa H, Dandamudi, Raja, Dharnidharka, Vikas R, Farrar, Michelle A, Goedeker, Natalie L, Mackie, Fiona E, Millner, Rachel, Reyna, Sandra P, Zaidman, Craig   +9 more
core   +1 more source

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

Case report: A case of spinal muscular atrophy in a preterm infant: risks and benefits of treatment

Frontiers in Neurology, 2023
Spinal muscular atrophy (SMA) is a neuromuscular genetic disorder caused by the loss of lower motor neurons leading to progressive muscle weakness and atrophy.
Elisa Nigro, Eyal Grunebaum, Binita Kamath, Christoph Licht, Caroline Malcolmson, Aamir Jeewa, Craig Campbell, Hugh McMillan, Pranesh Chakraborty, Mark Tarnopolsky, Hernan Gonorazky   +10 more
doaj   +1 more source

Cost-effectiveness of treatments for presymptomatic newborn patients with spinal muscular atrophy and two or three copies of the survival motor neuron 2 gene in Italy [PDF]

ObjectiveWe assessed the cost effectiveness of onasemnogene abeparvovec (OA) for presymptomatic infants with two or three copies of the survival motor neuron 2 (SMN2) gene (diagnosed/treated <= 6 weeks old) who lack functional SMN1 gene (biallelic ...
Basile, M, Di Brino, E, Ghetti, G, Pane, M, Rumi, F, Valentini, I   +5 more
core   +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

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

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

The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy

Annals of Neurology, EarlyView.
Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva, Karen Herbert, Lakshmi Balaji, Jia Mei He, Tejaswi Kandula, Hugo A. Sampaio, Hooi‐Ling Teoh, Esther Tantsis, Jihee Sohn, Nancy Briggs, Nickson Ning, Matthew C. Kiernan, Didu S. Kariyawasam, Michelle A. Farrar   +13 more
wiley   +1 more source

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