Results 31 to 40 of about 1,718 (175)

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

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 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   +1 more source

Pharmacological Therapies of Spinal Muscular Atrophy: A Narrative Review of Preclinical, Clinical–Experimental, and Real-World Evidence

Brain Sciences, 2023
Spinal muscular atrophy (SMA) is a rare neuromuscular disease, with an estimated incidence of about 1 in 10,000 live births. To date, three orphan drugs have been approved for the treatment of SMA: nusinersen, onasemnogene abeparvovec, and risdiplam. The
Salvatore Crisafulli, Brigida Boccanegra, Giacomo Vitturi, Gianluca Trifirò, Annamaria De Luca   +4 more
doaj   +1 more source

Addressing the implementation gap in advanced therapeutics for spinal muscular atrophy in the era of newborn screening programs

Frontiers in Neurology, 2022
Spinal muscular atrophy (SMA) is a rare genetic disease that results in progressive neuromuscular weakness. Without therapy, the most common form of the disease, type 1, typically results in death or chronic respiratory failure in the first 2 years of ...
Carmen Leon-Astudillo, Barry J. Byrne, Ramzi G. Salloum   +2 more
doaj   +1 more source

INNOVATIVE THERAPIES IN GENETIC DISEASES: SPINAL MUSCULAR ATROPHY [PDF]

Romanian Journal of Pediatrics, 2021
Spinal muscular atrophy is a congenital neuromuscular disease characterized by the deterioration of the motor neurons located mainly in the anterior horns of the spinal cord, leading to progressive muscle weakness and atrophy.
Elena-Silvia Shelby, Andrada Mirea
doaj   +1 more source

Efficacy and safety of risdiplam in adults with 5q-associated spinal muscular atrophy: a nationwide observational cohort study in Austria [PDF]

EClinicalMedicine
Petra Müller, G Bernert, Omar Keritam   +2 more
exaly   +2 more sources

Risdiplam (Evrysdi)

Canadian Journal of Health Technologies, 2021
CADTH recommends that Evrysdi should be reimbursed by public drug plans for the treatment of spinal muscular atrophy (SMA) in patients aged 2 months and older, if certain conditions are met. Evrysdi should only be reimbursed if the patient is under the care of a specialist with experience in the diagnosis and management of SMA, it is not ...
openaire   +3 more sources

How does risdiplam compare with other treatments for Types 1-3 spinal muscular atrophy: a systematic literature review and indirect treatment comparison [PDF]

, 2022
Aim: To conduct indirect treatment comparisons between risdiplam and other approved treatments for spinal muscular atrophy (SMA). Patients & methods: Individual patient data from risdiplam trials were compared with aggregated data from published ...
Evans, Rachel, Scott, David Alexander, Mahajan, Anadi, Daigl, Monica, Gorni, Ksenija, Hawkins, Neil, Martí, Yasmina, Abrams, Keith R, Ribero, Valerie Aponte   +8 more
core   +1 more source

Risdiplam for the treatment of adults with spinal muscular atrophy: experience of the Northern Ireland neuromuscular service [PDF]

, 2022
Introduction/AimsRisdiplam is the newest available treatment for patients with spinal muscular atrophy (SMA). There is little information on its use in adults. We present the clinical experience of adults with SMA treated with risdiplam through the Early
Grainne NicFhirleinn, McConville, John, Douglas, Isobel, John McConville, Sandya Tirupathi, NicFhirleinn, Grainne, Karen E. Morrison, McCluskey, Gavin, Lamb, Siobhan, Gavin McCluskey, Mason, Sarah, Morrison, Karen E.; id_orcid, Tirupathi, Sandya, Sarah Mason, Isobel Douglas, Siobhan Lamb, Morrison, Karen E.   +16 more
core   +1 more source