Results 61 to 70 of about 2,067 (154)

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

Rethinking Delivery Timing in Prenatally Diagnosed Spinal Muscular Atrophy: A Case Report With 2‐Year Follow‐Up

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective We describe the clinical course and outcome of a prenatally diagnosed infant with spinal muscular atrophy (SMA) treated immediately after early‐term birth and highlight considerations regarding delivery timing and neonatal management. Methods This male infant had a family history of SMA type 1A.
Emilie Groulx‐Boivin, Olivier Fortin, Simon Thebault, Unain Ansari, Victoria Nixon, Ariane Belzile, Richard Brown, Jarred Garfinkle, Maryam Oskoui   +8 more
wiley   +1 more source

The Multiple Criteria Qualitative Value‐Based Pricing Framework “MARIE” for Novel Cell and Gene Therapy

Clinical Pharmacology &Therapeutics, EarlyView.
When setting the price of cell and gene therapies in Japan, the factors considered include the manufacturing and operating costs of the new drug or a comparator, leading to discrepancies between price and values, in particular those specific to cell and gene therapies.
Akina Takami, Ataru Igarashi
wiley   +1 more source

Onasemnogene Abeparvovec for Treating Pre-symptomatic Spinal Muscular Atrophy: An External Assessment Group Perspective of the Partial Review of NICE Highly Specialised Technology Evaluation 15

, 2023
As part of the National Institute for Health and Care Excellence (NICE) highly specialised technology (HST) evaluation programme, Novartis submitted evidence to support the use of onasemnogene abeparvovec as a treatment option for patients with pre ...
Fleeman, Nigel, Bresnahan, Rebecca, Beale, Sophie, Marsden, Ashley, Chaplin, Marty, Boland, Angela, Munot, Pinki, Mahon, James, Dundar, Yenal, Houten, Rachel   +9 more
core   +1 more source

Onasemnogene Abeparvovec (Zolgensma)

Canadian Journal of Health Technologies, 2021
In the March 2021, the CADTH Canadian Drug Expert Committee recommended that onasemnogene abeparvovec be reimbursed for the treatment of pediatric patients with 5q spinal muscular atrophy (SMA) with biallelic mutations in the survival motor neuron 1 (SMN1) gene, if certain conditions were met.
openaire   +2 more sources

Disease‐specific body composition patterns in children with cerebral palsy and spinal muscular atrophy

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Spinal muscular atrophy (SMA) and cerebral palsy (CP) are severe neurological conditions characterized by neurodegeneration and non‐progressive brain injury, respectively, both profoundly affecting the nutritional status in children.
Giulia Fiore, Sara Vizzuso, Ramona De Amicis, Barbara Borsani, Mireia Escudero‐Marín, Alessandra Mari, Francesca Destro, Hatim Azaryah, Chiara Mastella, Anna Mandelli, Laura Stabilini, Alessandra Bosetti, Francesca Izzo, Elena Zoia, Eleonora Bonaventura, Lorenzo Norsa, Davide Tonduti, Gloria Pelizzo, Cristina Campoy, Simona Bertoli, Gianvincenzo Zuccotti, Elvira Verduci   +21 more
wiley   +1 more source

Challenges in Gene‐Directed Therapies for Rare Neurodevelopmental Disorders Using HNRNPU as an Exemplar

Clinical Genetics, EarlyView.
Beyond diagnosing rare neurodevelopmental disorders like HNRNPU‐RNDD, developing gene‐directed therapies requires overcoming complex hurdles, including spatial, developmental, and cell‐type constraints. Addressing these requires understanding the molecular effects of dosage and chromatin dynamics to deliver precise, effective treatments.
Daniel Aiyedun, Susan F. Rogers, Doaa M. Taha, Meena Balasubramanian   +3 more
wiley   +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

Ethics and equity in access to disease‐modifying therapies and newborn screening for spinal muscular atrophy: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
Outcomes of children with cerebral palsy receiving long‐term respiratory support. Aim To review barriers to ethical and equitable access to disease‐modifying therapies (DMTs) and newborn screening (NBS) for spinal muscular atrophy (SMA). Method We searched PubMed, Scopus, Web of Science, EBSCOhost, the Cochrane Library, Google Scholar, and Primo for ...
Serini Murugasen, Mariana Kruger, Marc Blockman, Jo M. Wilmshurst   +3 more
wiley   +1 more source

The Spinal Muscular Atrophy Functional Classification System

Developmental Medicine &Child Neurology, EarlyView.
The Spinal Muscular Atrophy Functional Classification System (SMAFCS) is a new four‐level functional mobility classification for spinal muscular atrophy, derived from Hammersmith Functional Motor Scale Expanded (HFMSE) thresholds and Functional Mobility Scale (FMS) groupings.
Jason J. Howard, H. Kerr Graham, M. Wade Shrader, Mary Schroth, Manish Kumar, Sadettin Ciftci   +5 more
wiley   +1 more source