Real-world benefits of Zolgensma for SMA seen in RESTORE data
WEBJan 31, 2024 · RESTORE (NCT04174157) is a real-world, observational patient registry that’s tracking outcomes for up to 15 years and seeks to capture responses to DMTs that weren’t available in earlier registries. Here, the scientists described clinical outcomes for 168 registry participants who’d been treated with Zolgensma as of May 2022 and hadn’t received any prior SMA therapies.
SMA Type 4: Symptoms, Treatment, and More - SMA News Today
WEBFeb 2, 2023 · Type 4. Age of onset. During adulthood, usually after age 35. Symptoms. Progressive muscle weakness, usually starting in the legs. Fatigue, numbness, and cramping. Mild hand and finger tremors. Prognosis. Lifespan is unaffected, and most patients retain the ability to walk independently.
FAQs About Evrysdi (Risdiplam) - SMA News Today
WEBAug 7, 2020 · FAQs About Evrysdi (Risdiplam) by Grace Frank August 7, 2020. Evrysdi (risdiplam) is an oral liquid treatment approved in the U.S. for infants through adults with spinal muscular atrophy (SMA) — patients age 2 months and older with any disease type. Roche and Genentech developed Evrysdi in collaboration with …
Spinal Muscular Atrophy: Nutrition and Supplementation
WEBThe nutritional management of patients with progressive neuromuscular diseases like Spinal Muscular Atrophy (SMA) is complex and is achieved optimally with an individualized approach from a multidisciplinary care team. 1,2 Patients with SMA need nutritional monitoring at least annually with assessment of caloric intake and standard ...
Branaplam – HCP SMA News Today
WEBBranaplam (LMI070, NVS-SM1; developed by Novartis) is a small molecule that stabilizes the transient double-strand RNA structure formed by the SMN2 pre-mRNA and U1 small nuclear ribonucleic protein complex. 8 Branaplam is currently being tested in an open-label, first-in-human, proof of concept Phase I/II clinical study in infants with SMA type ...
60-year-old is oldest SMA patient with no symptoms: Case report
WEBMay 22, 2024 · The 60-year-old man, who came in with symptoms of numbness thought to be due to a pinched nerve in the neck, was eventually diagnosed with SMA type 4 via genetic testing after imaging tests showed signs of nerve damage consistent with the disease. Symptoms linked to the pinched nerve resolved spontaneously, with no other SMA symptoms arising. “This case highlights diagnostic challenges of ...
SMA Type 2: Symptoms, Treatment, and More - SMA News Today
WEBFeb 2, 2023 · Muscle weakness also can affect muscles in the chest, throat, and mouth, giving rise to other SMA type 2 symptoms that affect daily living. Such symptoms include: problems eating, due to weakness in the muscles used to chew and swallow. breathing and coughing difficulties resulting from chest muscle weakness, which can …
Access needed to gene therapy for SMA outside rich countries: …
WEBNov 29, 2023 · More work is needed to expand access to the gene therapy Zolgensma (onasemnogene abeparvovec) for people with spinal muscular atrophy (SMA) living outside of wealthy countries like the U.S. or Australia. That’s the argument made by researchers in the paper, “ Gene therapy-based strategies for spinal muscular atrophy—an Asia-Pacific ...
In the rare disease community, more than diagnoses connect us
WEBFeb 23, 2024 · The 2019 movie “Five Feet Apart” focuses on a young couple, Stella and Will, who fall in love while receiving treatment for cystic fibrosis (CF). Their love is dangerous, though, because coming within 6 feet of others with CF can introduce them to new, fatal bacteria. The movie follows the unlikely pair and their budding hospital romance as ...
Spinal Muscular Atrophy: Cardiac Disease – HCP SMA News Today
WEBSpinal Muscular Atrophy (SMA) is an inherited neurodegenerative disease, 1 but it is increasingly clear that the pathology of SMA extends beyond ventral horn spinal cord neurons and includes the heart among other organs. 2 In patients with SMA, tissue levels of SMN1 protein are reduced in heart tissues, 3 and numerous mouse models of SMA exhibit cardiac developmental abnormalities which ...