SMA breathing difficulties eased with Zolgensma in real-world study
Dec 4, 2024 · Daily ventilation time for Zolgensma-treated children dropped by 3 hours. SMA is caused primarily by mutations in the SMN1 gene, which contains the genetic code for the protein SMN. These mutations lead to the progressive loss of motor neurons, the specialized nerve cells that control voluntary movement in the body, leading to muscle weakness and wasting.
SMA Type 2: Symptoms, Treatment, and More - SMA News Today
Feb 2, 2023 · All three — Spinraza, marketed by Biogen, Evrysdi, from Roche and Genentech, and Zolgensma, by Novartis Gene Therapies — have been approved in the last 10 years.None is a specific SMA type 2 treatment, but all are approved for use in patients with this disease type. Spinraza (nusinersen) is administered via injections into the spine, given every four months after an initial loading dose.
High dose of SMA treatment Spinraza shows benefits: Trial data
Oct 11, 2024 · Data expected to support regulatory applications come from a pivotal group of patients enrolled in the study’s Part B. This involved 75 symptomatic infants with SMA, ages one week to 7 months, who had never been treated with SMA therapies (treatment-naïve), and who received Spinraza at either the approved lower dose or the high-dose regimen.
Being thankful even for SMA
Nov 27, 2024 · Family, friends, and fellow SMA families stepped up without hesitation, assisting however they could. My parents, innkeepers at the family’s lodge on the Blue Ridge Parkway, helped with Jeffrey and his siblings, Matthew and Katie, and provided much-appreciated morale boosts.. Friends from my earlier days teaching kindergarteners with orthopedic and other conditions also didn’t skip a beat.
SMA treatment Spinraza eases fatigability in patients who can walk
Oct 30, 2024 · The study, “ Performance fatigability in adults with spinal muscular atrophy treated long-term with nusinersen,” was published in Muscle and Nerve. SMA is marked by symptoms including muscle weakness and wasting. Many patients also experience a phenomenon called performance fatigability, where repetitive movements such as walking cause tiredness over time, which makes it hard to keep doing ...
Top 10 SMA news stories of 2024
4 days ago · Read this story here. No. 5 — Combination therapy found to synergistically boost SMN production. When combined with a therapy like Spinraza, low-dose risdiplam — the active ingredient in Evrysdi, an approved disease-modifying treatment for SMA — boosted the production of SMN, the protein that’s deficient in SMA, beyond that of each treatment alone.
SMA’s effects on gene activity vary across tissues: Study
Dec 2, 2024 · Another gene, Snrpa1, was upregulated in the spinal cord.Snrpa1 is involved in pre-messenger RNA splicing, a key process to produce a mature messenger RNA molecule that serves as an intermediary between genes and new proteins.. Beyond individual genes, the researchers said, the big takeaway from this analysis is that the way SMA affects genetic activity in cells likely varies by tissue type ...
Model predicts scoliosis risk in patients receiving SMA treatment
Dec 18, 2024 · Risk factors in new SMA treatment era. Traditionally, scoliosis risk has been estimated largely based on the type of SMA that a person has. People with SMA type 1, who develop symptoms in early infancy, will almost always develop scoliosis in the long term, whereas scoliosis is less common in individuals with milder SMA type 2 and SMA type 3.. Here, researchers conducted a series of analyses ...
Study calls for streamlined SMA treatment in Australia
Nov 20, 2024 · SMA treatment profiles. SMA is a genetic disease characterized by progressive muscle weakness and other symptoms. It is most commonly caused by mutations in the SMN1 gene, resulting in little or no SMN protein being made.. To gain insights into the clinical and genetic profiles of people with SMA in Australia, along with their treatment experiences and outcomes, the researchers drew on data ...
Altered body fat, metabolic disturbances common in SMA adults
Oct 18, 2024 · People with SMA type 2 and those who weren’t ambulatory, meaning they couldn’t walk, showed the greatest alterations in body composition and blood sugar. “Adult patients with SMA had abnormal body composition and highly prevalent metabolic disturbances that might increase cardiometabolic risk,” wrote the researchers, who noted, however that “because treatments have modified the ...