Results 81 to 90 of about 2,046 (140)

Risdiplam: therapeutic effects and tolerability in a small cohort of 6 adult type 2 and type 3 SMA patients

Orphanet Journal of Rare Diseases
Background Risdiplam is a validated treatment for adult SMA patients, but clear guidelines concerning functional assessment at baseline and during the follow-up are still limited, especially in terms of sensible and validated outcome measures able to ...
Gianmarco Severa, Maria del Carmen Alfaro, Christophe Alimi Ichola, Hussein Shoaito, Sarah Souvannanorath, François-Jerôme Authier, Edoardo Malfatti   +6 more
doaj   +1 more source

Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives

Therapeutics and Clinical Risk Management, 2019
Tamara Dangouloff,1 Laurent Servais1,2 1Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège & University of Liège, Liège, Belgium ...
Dangouloff T, Servais L
doaj  

Zdravljenje prvih bolnikov z gensko nadomestno terapijo v Sloveniji; otroka s spinalno mišično atrofijo, ki sta se zdravila z zdravilom onasemnogene abeparvovek

Zdravniški Vestnik
Spinalna mišična atrofija (SMA) je redka genetska bolezen, ki prizadene motorične nevrone, zaradi česar propadajo mišice ter se slabša splošno stanje bolnika.
Eva Vrščaj, Tanja Golli, Tanja Loboda, Alenka Piskar, Matjaž Homan, Damjan Osredkar   +5 more
doaj   +1 more source

JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam [PDF]

Risdiplam is a once-daily oral, survival of motor neuron 2 (SMN2) splicing modifier approved for the treatment of spinal muscular atrophy (SMA). JEWELFISH (NCT03032172) investigated the safety, tolerability, pharmacokinetics (PK), and PK/pharmacodynamic (
Bruno, Claudio, Carruthers, Imogen, Chiriboga, Claudia A, Duong, Tina, Fischer, Dirk, Fontoura, Paulo, Gorni, Ksenija, Jaber, Birgit, JEWELFISH Study Group, Kirschner, Janbernd, Kletzl, Heidemarie, Kostera-Pruszczyk, Anna, Martin, Carmen, Mercuri, Eugenio, Muntoni, Francesco, Scalco, Renata S   +15 more
core  

Global impact of unproductive splicing on human gene expression [PDF]

Alternative splicing (AS) in human genes is widely viewed as a mechanism for enhancing proteomic diversity. AS can also impact gene expression levels without increasing protein diversity by producing ‘unproductive’ transcripts that are targeted for rapid
Buen Abad Najar, Carlos F., Fair, Benjamin, Li, Yang I., Lozano, Stephanie, Mossian, Gabriela, Reilly, Austin, Staley, Jonathan P., Wang, Jingxin, Zhao, Junxing   +8 more
core   +1 more source

Respiratory morbidity in patients with spinal muscular atrophy—a changing world in the light of disease-modifying therapies

Frontiers in Pediatrics
Respiratory complications are common in spinal muscular atrophy (SMA) and significantly contribute to morbidity and mortality in these patients. Generalized respiratory and bulbar muscle weakness translates into diverse and complex clinical consequences ...
Leen Lagae, Marijke Proesmans, Marijke Proesmans, Marleen Van den Hauwe, Marleen Van den Hauwe, François Vermeulen, François Vermeulen, Liesbeth De Waele, Liesbeth De Waele, Mieke Boon, Mieke Boon   +10 more
doaj   +1 more source

Risdiplam therapy in adults with 5q-SMA: observational study on motor function and treatment satisfaction

BMC Neurology
Background We aimed to describe the experience of a single neuromuscular center in Germany in treating adult spinal muscular atrophy (SMA) patients with risdiplam and to analyze motor function and treatment satisfaction during a follow-up period up to 20 
Bogdan Bjelica, Camilla Wohnrade, Iraima Cespedes, Alma Osmanovic, Olivia Schreiber-Katz, Susanne Petri   +5 more
doaj   +1 more source

Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016 [PDF]

Background The advent of disease-modifying treatments (DMT) has changed natural history in 5q Spinal muscular atrophy (SMA). The aim of this study was to report survival and functional aspects in all the Italian type I children born since 2016.
Cavallina, Ilaria, Leone, Daniela, Mastella, Chiara, Ricci, Federica   +3 more
core   +4 more sources

ID036 Judicialização da saúde para medicamentos órfãos: Redução dos custos com aquisição centralizada pelo Ministério da Saúde no caso do Risdiplam

Jornal de Assistência Farmacêutica e Farmacoeconomia
Introdução A judicialização da saúde é um fenômeno que tem impactado a gestão de recursos do Sistema Único de Saúde (SUS), especialmente com a judicialização no tratamento de doenças raras, como a Atrofia Muscular Espinhal (AME) que se utilizam de ...
Ângela Maria Bagattini, Ligia Oliveira Almeida Mendes   +1 more
doaj   +1 more source

Considerations for Treatment in Clinical Care of Spinal Muscular Atrophy Patients

Children
Spinal Muscular Atrophy is a neurodegenerative disease which can lead to muscle weakness, paralysis, and in some cases death. There are many factors that contribute to the severity of symptoms and those factors can be used to determine the best course of
Stephanie Voight, Kapil Arya
doaj   +1 more source