Results 41 to 50 of about 1,977 (181)

Early‐stage health technology assessment of a curative gene therapy for multiple sclerosis

British Journal of Clinical Pharmacology, EarlyView.
Aims Multiple sclerosis (MS) is associated with significant early morbidity, reduced life expectancy and substantial healthcare and societal costs. The primary objective of this study is to assess the early cost‐effectiveness potential of a novel gene therapy, IMMUTOL, for MS compared with current high‐efficacy treatment sequences.
Attila Imre, Balázs Nagy, Rok Hren
wiley   +1 more source

Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain [PDF]

BACKGROUND: Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by mutations in Survival motor neuron 1 (SMN1) gene, leading to reduction in survival motor neuron protein (SMN), key for motor neuron survival and function in the ...
Cornell, Nikki, Hughes, Imelda, Baranello, Giovanni, Wraige, Elizabeth, Chow, Gabriel, Spinty, Stefan, Munot, Pinki, Willis, Tracey, Majumdar, Anirban, Ambegaonkar, Gautam, Marini-Bettolo, Chiara, paediatric UK risdiplam EAMS working group, ., Childs, Anne-Marie, Parasuraman, Deepak, Illingworth, Marjorie, Scoto, Mariacristina   +15 more
core   +3 more sources

Risdiplam treatment following onasemnogene abeparvovec in individuals with spinal muscular atrophy: a multicenter case series

BMC Neurology
Background Spinal muscular atrophy (SMA) is caused by deletions or mutations in the survival of motor neuron (SMN) 1 gene resulting in progressive motor function loss, and additional disease-related complications, including dysphagia and respiratory ...
Melissa D. Svoboda, Nancy Kuntz, Carmen Leon-Astudillo, Barry J. Byrne, Jena Krueger, Jennifer M. Kwon, Cory Sieburg, Diana Castro   +7 more
doaj   +1 more source

Rapid Access to Photoswitchable RNA Binders: Fluorination Enhances Protein Rescue by Exon Inclusion

Chemistry – A European Journal, EarlyView.
An adaptable approach, many light‐switchable RNA binders. We report a versatile strategy for rapidly synthesizing photoswitchable RNA binders. The ligands can target SMN2 pre‐mRNA, restoring the levels of the corresponding protein by exon‐inclusion rescue.
Lei Zhang, Nemanja Djokovic, Alexander Herr, Anna Wacker, Emily Swanson Hay, Daniel Santana, Amanda E. Hargrove, Harald Schwalbe, Katarina Nikolic, Frank Abendroth, Olalla Vázquez   +10 more
wiley   +1 more source

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

Cytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen, Nora Hosny, Brian R. Thompson, Joseph M. Metzger   +3 more
wiley   +1 more source

The Impact of Common Medications on Male Fertility: An Updated Systematic Review

Andrology, EarlyView.
ABSTRACT Background Compared with those of cytotoxic treatments, the potential effects of common medications on the fertility of men trying to conceive currently or planning to conceive in the future are less well described. The use of common medications may modify the gonadotropic axis, spermatogenesis, and epididymal maturation or alter male ...
Lina Jebli, Salomé Gallissian, Roxanne Barèges, Félicia Fournier, Catherine Metzler‐Guillemain, Ségolène Prades, Fanny Magnan‐Sebag, Jeanne Perrin   +7 more
wiley   +1 more source

How does risdiplam compare with other treatments for Types 1-3 spinal muscular atrophy: a systematic literature review and indirect treatment comparison [PDF]

, 2022
Aim: To conduct indirect treatment comparisons between risdiplam and other approved treatments for spinal muscular atrophy (SMA). Patients & methods: Individual patient data from risdiplam trials were compared with aggregated data from published ...
Evans, Rachel, Scott, David Alexander, Mahajan, Anadi, Daigl, Monica, Gorni, Ksenija, Hawkins, Neil, Martí, Yasmina, Abrams, Keith R, Ribero, Valerie Aponte   +8 more
core   +1 more source

Risdiplam utilization, adherence, and associated health care costs for patients with spinal muscular atrophy: a United States retrospective claims database analysis

Orphanet Journal of Rare Diseases
Background Spinal muscular atrophy (SMA) is a genetic neuromuscular disease associated with progressive loss of motor function. Risdiplam, a daily oral therapy, was approved in the United States for the treatment of SMA. Risdiplam’s effectiveness depends
Anish Patel, Walter Toro, Min Yang, Wei Song, Raj Desai, Mingchen Ye, Nadia Tabatabaeepour, Omar Dabbous   +7 more
doaj   +1 more source

Selective modulation of NaV channel gating counteracts aberrant hyperexcitability and rescues motor function and survival in a model of spinal muscular atrophy

British Journal of Pharmacology, EarlyView.
Background and Purpose Spinal muscular atrophy (SMA) is a motor neuron disease caused by SMN1 gene loss, leading to reduced survival motor neuron (SMN) protein and progressive motor neuron degeneration. Although SMN‐restoring therapies improve outcomes, residual disease burden and non‐curative efficacy underscore the need for complementary treatments ...
Fernanda C. Cardoso, Jessica A. I. Muller, Yougang Zhang, Jean Giacomotto   +3 more
wiley   +1 more source

Safety of Risdiplam in Japanese Patients with Spinal Muscular Atrophy: A 12‑Month Interim Analysis of a Postmarketing Surveillance Study

Neurology and Therapy
Introduction Risdiplam, an oral splicing modifier for the survival motor neuron-2 gene (SMN2), is approved for treating spinal muscular atrophy (SMA).
Kayoko Saito, Toshio Saito, Reiko Arakawa, Yasuhiro Takeshima, Hisahide Nishio, Yuka Ishikawa, Masahisa Katsuno, Takahiko Tsumuraya, Hiromitsu Kawata, Yuki Miyano, Hirofumi Komaki   +10 more
doaj   +1 more source