Results 21 to 30 of about 1,977 (181)

Development of a chromatographic method for the analysis of risdiplam in serum extracts

Bioanalysis
Risdiplam has been used to treat spinal muscular atrophy for 3 years. There are limited number of papers devoted to its analytics. Until now, risdiplam and its metabolites have only been analyzed using a C18 column, while the sample preparation method involved protein precipitation. Risdiplam was analyzed using reversed-phase UHPLC.
Sylwia Studzinska, Maria Mazurkiewicz-Bełdzińska   +1 more
exaly   +4 more sources

Efficacy of risdiplam in spinal muscular atrophy: A systematic review and meta‐analysis

Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy, 2023
AbstractThis systematic review and meta‐analysis aimed to assess the efficacy and safety of risdiplam on motor and respiratory function in spinal muscular atrophy (SMA). We systematically searched Medline, Scopus, Web of Science, and the Cochrane Library from inception to March 2023.
Carlos Pascual‐Morena, Vicente Martínez‐Vizcaíno, Iván Cavero‐Redondo, Irene Martínez‐García, Nerea Moreno‐Herráiz, Celia Álvarez‐Bueno, Alicia Saz‐Lara   +6 more
openaire   +3 more sources

Assessment of safety and efficacy of risdiplam treatment in adults with spinal muscular atrophy [PDF]

Frontiers in Neurology
IntroductionRisdiplam has been shown to be safe, well tolerated, and improves or stabilizes motor function in individuals with SMA, but limited published data exists for adults.
Andrea Jaworek, Kathryn Jira, Matti Allen, Songzhu Zhao, Kristina Kelly, Trevor Moravec, Marco Tellez, Sarah Heintzman, Jerold Reynolds, Gary Sterling, Stephen J. Kolb, William David Arnold, Bakri Elsheikh   +12 more
doaj   +2 more sources

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   +2 more sources

Risdiplam treatment has not led to retinal toxicity in patients with spinal muscular atrophy [PDF]

, 2021
Objective: Evaluation of ophthalmologic safety with focus on retinal safety in patients with spinal muscular atrophy (SMA) treated with risdiplam (EVRYSDI), a survival of motor neuron 2 splicing modifier associated with retinal toxicity in monkeys ...
Nora Denk, Emmanuel Barreau, Nave, S, Santarsiero, Diletta, Amorelli, GM, Yashiro, Shigeko, Furst-Recktenwald, S, Mercuri, E, Jacobsen, Bjoern, Giovanni Baranello, Tremolada, Gemma, Marzoli, SB, Jaber, Birgit, Barreau, Emmanuel, Denk, Nora, Nave, Stephane, Gorni, K, Sabine Fürst‐Recktenwald, Birgit Jaber, Gerber, Marianne, Stefania B. Marzoli, Sergott, RC, Baranello, Giovanni, Kane, S, Jaber, B, Robert C. Sergott, Stephane Nave, Mueller, Lutz, Scalco, RS, Lorenzo Orazi, Melissa SantaMaria, Mueller, L, Agnieszka Waskowska, Mercuri, Eugenio, Shigeko Yashiro, Gorni, Ksenija, Yashiro, S, Steven Kane, Orazi, L, Denk, N, Beres, Shannon, Amorelli, Giulia, Gemma Tremolada, SantaMaria, M, Gerber, M, Beres, S, Kane, Steven, Santarsiero, D, Waskowska, Agnieszka, Baranello, G, Orazi, Lorenzo, Fürst‐recktenwald, Sabine, Waskowska, A, Jacobsen, B, Santamaria, Melissa, Renata S. Scalco, Diletta Santarsiero, Shannon Beres, Marianne Gerber, Lutz Mueller, Bjoern Jacobsen, Tremolada, G, Giulia M. Amorelli, Ksenija Gorni, Marzoli, Stefania, Scalco, Renata, Sergott, Robert C., Barreau, E, Eugenio Mercuri   +68 more
core   +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

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

Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls [PDF]

, 2021
BACKGROUND Type 1 spinal muscular atrophy (SMA) is a progressive neuromuscular disease characterized by an onset at 6 months of age or younger, an inability to sit without support, and deficient levels of survival of motor neuron (SMN) protein ...
Masson, Riccardo, Zanoteli, E, Khwaja, O, Scalco, Renata S., Xiong, Hui, Vlodavets, Dmitry, Mazurkiewicz-Bełdzińska, Maria, Scalco, Renata S, Roberto De Sanctis, Gorni, K, Servais, Laurent, Gerber, Marianne, Baranello, Giovanni, Rose, K, Scalco, RS, Lorenzo Orazi, Fontoura, Paulo, Kletzl, Heidemarie, Gorni, Ksenija, FIREFISH Working Group, Xiong, H, Claudio Bruno, Gerber, M, Kletzl, H, Stefania Bianchi Marzoli, Ambrosio, Lucia, Vlodavets, D, Darras, Basil T, Baranello, G, Servais, L, El-Khairi, Muna, El-Khairi, M, Marika Pane, Khwaja, Omar, Giulia Maria Amorelli, Wang, Y, Bruno, Claudio, Rose, Kristy, Fontoura, P, Zanoteli, Edmar, Masson, R, Wang, Yi, Maria Carmela Pera, Concetta Palermo, Bruno, C, Eugenio Mercuri, Mazurkiewicz-Bełdzińska, M, Giorgia Coratti, Darras, BT, Darras, Basil T.   +49 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

Risdiplam: an investigational survival motor neuron 2 (SMN2) splicing modifier for spinal muscular atrophy (SMA).

, 2022
peer reviewedINTRODUCTION: Spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disease which is characterised by muscle atrophy and early death in most patients.
Markati, Theodora, Fisher, Gemma, Ramdas, Sithara, Servais, Laurent   +3 more
core   +2 more sources