Results 21 to 30 of about 2,046 (140)

Longitudinal efficacy of risdiplam treatment in Chinese children with spinal muscular atrophy [PDF]

Orphanet Journal of Rare Diseases
Background As the latest drug available for the treatment of spinal muscular atrophy (SMA), real-world research data on risdiplam are still lacking. The purpose of this study was to supplement the real-world data in SMA children receiving risdiplam by ...
Yue Yan, Danhui Zhu, Kai Ma, Xufeng Luo, Xiaoli Zhang, Xiaolong Deng, Mei Lu, Yang Li, Jianwei Li, Feng Gao, Shanshan Mao   +10 more
doaj   +2 more sources

Population Physiologically-Based Pharmacokinetic Modeling to Determine Ontogeny: A Quantitative Clinical Pharmacology Example in Pediatric Rare Disease. [PDF]

CPT Pharmacometrics Syst Pharmacol
ABSTRACT Pediatric physiologically‐based pharmacokinetic (PBPK) modelling plays an increasing role in selecting doses in children and addressing clinical pharmacology questions. Ethical concerns often limit clinical pharmacology studies that have no direct therapeutic benefit in children, highlighting the value of PBPK model predictions.
Cleary Y, Prasad B, Ogungbenro K, Gertz M, Galetin A.   +4 more
europepmc   +2 more sources

Liver Steatosis in Induced Hepatocytes From Carriers of Spinal Muscular Atrophy. [PDF]

Muscle Nerve
ABSTRACT Introduction/Aims Although classically characterized as a motor neuron disease, spinal muscular atrophy (SMA) is increasingly recognized as a multisystem disorder. We previously showed hepatocyte‐intrinsic steatosis in SMA, raising the question of whether SMA carriers, who are typically asymptomatic, may also exhibit subclinical hepatic ...
Sun L, Leow DMK, Wang LC, Eio MY, Koh HWL, Khong ZJ, Narayanan G, Teo AKS, Giadone R, Sobota RM, Ng SY, Teo AKK, Ong WY, Rubin LL, Darras BT, Yeo CJJ.   +15 more
europepmc   +2 more sources

Review of therapeutic options for spinal muscular atrophy [PDF]

Scripta Medica, 2021
Spinal Muscular Atrophy (SMA) is uncommon genetic (autosomal recessive) disease that deteriorates neuromuscular function of the affected person's body by causing lower motor neuron damage, progress in muscle atrophy and in advanced cases leads to ...
Singh Arun, Jain Monica, Kapadia Rupa, Mahawar-Dhirendra Kumar, Kakkar Shivankan, Dadhich Jaya, Chandel-Ritesh Kumar   +6 more
doaj   +1 more source

Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA) [PDF]

, 2023
Risdiplam is an oral, survival of motor neuron 2 (SMN2) pre-mRNA splicing modifier approved for the treatment of spinal muscular atrophy (SMA). SUNFISH (NCT02908685) Part 2, a Phase 3, randomized, double-blind, placebo-controlled study, investigated the ...
Baranello, Giovanni, Day, John W, Deconinck, Nicolas, Fontoura, Paulo, Goemans, Nathalie, Gorni, Ksenija, Kirschner, Janbernd, Kletzl, Heidemarie, Kostera-Pruszczyk, Anna, Martin, Carmen, Mazzone, Elena S, McIver, Tammy, Mercuri, Eugenio, Nascimento, Andres, Oskoui, Maryam, Papp, Gergely, Saito, Kayoko, Scalco, Renata S, Servais, Laurent, Staunton, Hannah, SUNFISH Working Group, Vuillerot, Carole, Yeung, Wai Yin   +22 more
core   +4 more sources

Health economic evaluation of risdiplam in patients with spinal muscular atrophy

Фармакоэкономика, 2021
Background. Spinal muscular atrophies (SMA) are clinically and genetically heterogenous inherited orphan diseases leading to progressive spinal motoneurons degeneration and loss of function.
А. S. Kolbin, А. А. Kurylev, Yu. Е. Balykina, М. А. Proskurin, S. А. Mishinova   +4 more
doaj   +1 more source

An expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophy

Annals of Clinical and Translational Neurology, 2022
Objective The US risdiplam expanded access program (EAP; NCT04256265) was opened to provide individuals with Type 1 or 2 spinal muscular atrophy (SMA) who had no satisfactory treatment options access to risdiplam prior to commercial availability.
Jennifer M. Kwon, Kapil Arya, Nancy Kuntz, Han C. Phan, Cory Sieburg, Kathryn J. Swoboda, Aravindhan Veerapandiyan, Beverly Assman, Silvia Bader‐Weder, Travis L. Dickendesher, Jennifer Hansen, Helen Lin, Ying Yan, Vamshi K. Rao, US Expanded Access Program Working Group   +14 more
doaj   +1 more source

Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification [PDF]

, 2023
Spinal muscular atrophyAtròfia muscular espinalAtrofia muscular espinalWe sought to devise a rational, systematic approach for defining/grouping survival motor neuron-targeted disease-modifying treatment (DMT) scenarios.
De Vivo, Darryl, Finkel, Richard, Kirschner, Janbernd, Mercuri, Eugenio, Muntoni, Francesco, Proud, Crystal M., TIZZANO, EDUARDO F.   +6 more
core   +4 more sources

Oral risdiplam for specific therapy in adult patients with 5q spinal muscular atrophy in the Moscow region [PDF]

Анналы клинической и экспериментальной неврологии, 2023
5q spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disease characterized by gradual loss of motor neurons with progressive muscle weakness and atrophy.
Ekaterina S. Novikova
doaj   +1 more source

Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany

Orphanet Journal of Rare Diseases, 2022
Background The oral, selective SMN2-splicing modifier risdiplam obtained European approval in March 2021 for the treatment of patients ≥ 2 months old with a clinical diagnosis of 5q-associated spinal muscular atrophy (SMA) 1/2/3 or with 1–4 SMN2 gene ...
Andreas Hahn, René Günther, Albert Ludolph, Oliver Schwartz, Regina Trollmann, Patrick Weydt, Markus Weiler, Kathrin Neuland, Martin Sebastian Schwaderer, Tim Hagenacker, the Risdiplam Compassionate Use Program Group   +10 more
doaj   +1 more source