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2024年11月6日 · Oral strength and endurance — important for functions like swallowing, speaking, and chewing — were found diminished in adults with spinal muscular atrophy (SMA) in three out of five assessments, according to a new study. In particular, untreated SMA type 2 patients who couldn’t walk had the most…. October 30, 2024 News by Marisa Wexler ...
Accurate genetic testing 'crucial' for early diagnosis of SMA: Study
17 小时之前 · The gold standard for an SMA diagnosis is genetic testing to identify disease-causing mutations. However, “ routine genetic testing methods may overlook structural variants outside of exon 7, potentially leading to misdiagnosis of SMA patients,” the researchers wrote. In this study, the clinicians detailed the cases of two children in the Tianjin area of northern China who had delayed SMA ...
Advocates come together for SMA Awareness Month in August
2024年7月31日 · August is Spinal Muscular Atrophy (SMA) Awareness Month, and patients, caregivers, doctors, researchers, and other supporters are coming together to improve disease knowledge, patient advocacy, and research funding to help find a cure for the rare genetic condition. SMA is a neuromuscular disorder that affects the nerve cells, or motor neurons ...
Awareness Month shines brighter spotlight on SMA community
2023年7月31日 · Each August, SMA Awareness Month strives to raise awareness of spinal muscular atrophy (SMA), the condition caused by the deficiency of a motor neuron protein called SMN and other rare forms of the disease that stem from chromosome mutations. This neurodegenerative disorder is believed to affect one in 8,000 to 10,000 individuals globally.
Real-world benefits of Zolgensma for SMA seen in RESTORE data
2024年1月31日 · 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.
Top 10 SMA Stories of 2021 - SMA News Today
2022年1月3日 · No. 1 — “ A ‘Miracle’: Spinraza Gives Boy, Now 5, a Chance to Grow Up ”. Our most-read article of 2021 concerned the story of 5-year-old Jase Yoder, who initiated Spinraza treatment in the Phase 2 NURTURE trial (NCT02386553) just 18 days after being diagnosed with SMA type 1. Starting treatment when he was not yet 1 month old, Jase ...
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SBMA therapy NIDO-361 granted orphan drug status in Europe. NIDO-361, Nido Biosciences’ experimental oral treatment for spinal and bulbar muscular atrophy (SBMA) — a disease type marked by progressive weakness in the muscles of the throat and mouth, and those closer to the trunk —…. October 21, 2024 News by Lindsey Shapiro PhD.
New large-scale SMA carrier screening test most effective: Study
2024年10月14日 · A new large-scale genetic screening technique for spinal muscular atrophy (SMA) called comprehensive SMA analysis, or CASMA, was more effective at detecting disease-related mutations in carriers than standard approaches, a study reports. CASMA “is a simple and accurate screening method for SMA, which shows greater clinical efficacy in the ...
Phase 3 trial of apitegromab in SMA type 2, 3 patients now...
2023年9月20日 · The Phase 3 SAPPHIRE trial (NCT05156320) aimed to recruit up to 204 patients with SMA type 2 or 3, who are on stable treatment with Spinraza (nusinersen) or Evrysdi (risdiplam) at over 50 sites across the U.S. and Europe.. Its main goal is to evaluate the effectiveness of one year of apitegromab treatment versus a placebo, using a standardized measure of motor function called the Hammersmith ...
Top 10 SMA Stories of 2020 – SMA News Today
2021年1月4日 · Here are the top 10 most-read articles of 2020, with a brief description of what made them relevant for the SMA community. No. 10 — “ ZPR1 Protein May Be New Potential Therapeutic Target for SMA, Preclinical Study Suggests ”. Researchers in the U.S. found that increasing the levels of ZPR1 — a protein found in low levels in SMA patients ...