Results 51 to 60 of about 1,718 (175)

Estimation of FMO3 Ontogeny by Mechanistic Population Pharmacokinetic Modelling of Risdiplam and Its Impact on Drug-Drug Interactions in Children

, 2023
BACKGROUND AND OBJECTIVE: Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by insufficient levels of survival motor neuron (SMN) protein.
Frey, Nicolas, Cleary, Yumi, Kletzl, Heidemarie, Heinig, Katja, Gertz, Michael, Galetin, Aleksandra, Silber Baumann, Hanna Elisabeth, Aarons, Leon; id_orcid, Grimsey, Paul, Ogungbenro, Kayode; id_orcid   +9 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

Autism spectrum disorder in children with spinal muscular atrophy type 1: Case series

Developmental Medicine &Child Neurology, EarlyView.
Autism spectrum disorder (ASD) was identified in 37.5% of children with SMA (n = 13). While IQ did not differ significantly between groups, adaptive functioning was reduced in those with co‐occurring ASD. Results support routine early neurodevelopmental screening in children with spinal muscular atrophy.
Lorena V. Rezende, Adriana B. Ortega, Daniel A. Do Valle, Tiago S. Bara, Mara L. Cordeiro   +4 more
wiley   +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

Non-Invasive Spinal Cord Stimulation for Motor Rehabilitation of Patients with Spinal Muscular Atrophy Treated with Orphan Drugs

Biomedicines
Spinal muscular atrophy (SMA) is an orphan disease characterized by the progressive degeneration of spinal alpha motor neurons. In recent years, nusinersen and several other drugs have been approved for the treatment of this disease.
Anton Novikov, Maria Maldova, Natalia Shamantseva, Ivan Shalmiev, Elena Shoshina, Natalia Epoyan, Natalia Krutikova, Tatiana Moshonkina   +7 more
doaj   +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

The Illness Narratives of Children and Young People With Spinal Muscular Atrophy: A Scoping Review

Journal of Advanced Nursing, EarlyView.
ABSTRACT Aim(s) This review seeks to explore the illness narratives of children and young people focusing on their healthcare trajectories; the right to health; and the kind of stories told about them. Design This scoping review adopts a narrative approach to analyse how the illness experience of Spinal Muscular Atrophy is represented in the literature,
Marcela González‐Agüero, Constanza Quezada, Valentina Turén, Josefa Camelio, Martina De Filippi, Caroline Bradbury‐Jones, Julie Taylor   +6 more
wiley   +1 more source

A Retrospective Cohort Study of Nutrition Outcomes in Children With Spinal Muscular Atrophy Type 1 and 2 Treated With Disease Modifying Therapies

Muscle &Nerve, Volume 74, Issue 1, Page 198-206, July 2026.
ABSTRACT Introduction/Aims Few studies have investigated nutrition as a primary outcome of disease modifying therapy (DMT) in spinal muscular atrophy (SMA). This study aimed to describe nutrition outcomes of DMT in children with SMA 1 and 2. Methods Children ≤ 18 years old with SMA 1 or 2 treated with DMTs, and untreated children with SMA 1 were ...
Katie O'Brien, Kay Nguo, Eppie M. Yiu, Ian R. Woodcock, Natassja Billich, Zoe E. Davidson   +5 more
wiley   +1 more source

Cognitive and neurodevelopmental disorders in spinal muscular atrophy type I at the time of disease‐modifying therapies

Developmental Medicine &Child Neurology, Volume 68, Issue 7, Page 909-915, July 2026.
Abstract After treatment with new disease‐modifying therapies, cognitive and neurodevelopmental aspects have been observed in individuals with spinal muscular atrophy (SMA). Emerging evidence suggests that children with SMA type 1 may experience cognitive, language, and behavioural delays, with reported rates of neurodevelopmental difficulties ranging ...
Giorgia Coratti, Bianca Buchignani, Eugenio Mercuri   +2 more
wiley   +1 more source

Risdiplam retention studies and development of extraction from serum

The primary objective was to investigate the retention of risdiplam under various conditions in reversed-phase ultra-high performance liquid chromatography. Such a study proved to be crucial to better understand the retention mechanism of risdiplam.
Studzińska, Sylwia
core   +1 more source