Results 21 to 30 of about 2,012 (138)

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: 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, Gemma Fisher, Theodora Markati, Sithara Ramdas, Laurent Servais   +7 more
core   +2 more sources

Maternal-Fetal Administration of Risdiplam Partially Rescues the SMNΔ7 Mouse Model of Spinal Muscular Atrophy. [PDF]

Ann Neurol
Objective Spinal muscular atrophy (SMA) is caused by deletions or mutations in the survival motor neuron 1 (SMN1) gene and subsequent reduction in the expression of survival motor neuron (SMN) protein. The disease is characterized by degeneration of α motor neurons and subsequent muscle atrophy.
Sutton ER, Beauvais A, Yaworski R, McMillan HJ, Kothary R.   +4 more
europepmc   +2 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

Risdiplam: A Review in Spinal Muscular Atrophy

, 2022
Declarations Funding The preparation of this review was not supported by any external funding. Authorship and Conflict of interest Julia Paik is a salaried employee of Adis International Ltd/Springer Nature, and declares no relevant conflicts of ...
Julia Paik (6912664)
core   +1 more source

Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain [PDF]

BACKGROUND: Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by mutations in Survival motor neuron 1 (SMN1) gene, leading to reduction in survival motor neuron protein (SMN), key for motor neuron survival and function in the ...
Cornell, Nikki, Hughes, Imelda, Baranello, Giovanni, Wraige, Elizabeth, Chow, Gabriel, Spinty, Stefan, Munot, Pinki, Willis, Tracey, Majumdar, Anirban, Ambegaonkar, Gautam, Marini-Bettolo, Chiara, paediatric UK risdiplam EAMS working group, ., Childs, Anne-Marie, Parasuraman, Deepak, Illingworth, Marjorie, Scoto, Mariacristina   +15 more
core   +5 more sources

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