For the first time ever, British spinal muscular atrophy (SMA) patients and their families have taken to the streets to voice anger over a draft recommendation not to provide government funds to cover the cost of Spinraza (nusinersen) to treat the disease. Apparently, the noisy protests have had…
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Lukasz Szczepara showed up to a recent spinal muscular atrophy (SMA) conference in Poland wearing a camouflage T-shirt emblazoned with the words “Deadly Serious.” It was no coincidence. Szczepara and his Venezuelan wife, Yndhira Ramírez, have made it their life’s mission to ensure one thing: the health of their younger…
Systemic inflammation and bacterial infections may be key in the progression of spinal muscular atrophy (SMA), according to a recent mouse study. The research, “A severe mouse model of spinal muscular atrophy develops early systemic inflammation,” was published in the journal Human Molecular Genetics. SMA is caused…
Lifesaving therapies like Spinraza (nusinersen) and others still in trials are indeed important breakthroughs for patients with spinal muscular atrophy (SMA), but they’re still no substitute for time-honored medical strategies like early, machine-assisted ventilation that vastly improve quality of life. So says respiratory physiotherapist Miguel R. Gonçalves, MD, of Portugal’s…
The Institute for Clinical and Economic Review (ICER) has shared the details of its future analysis comparing the clinical benefits and long-term cost-effectiveness of approved Spinraza (nusinersen) and investigational therapy AVXS-101 for people with spinal muscular atrophy (SMA). In August, the nonprofit research institute announced it would conduct a comparative analysis between Biogen‘s…
Zosia Malkowska looks and acts like a perfectly healthy, happy 2-year-old. No one observing the girl — whose antics stole the show at the opening of last week’s 6th Polish SMA Conference in Warsaw — would guess she had been born with spinal muscular atrophy (SMA). That’s because Zosia is relatively…
A new experimental method of delivering Spinraza (nusinersen) to people with spinal muscular atrophy (SMA) could reduce both the costs and burden of the treatment, potentially allowing more patients access to the therapy, researchers say. The new approach was outlined in the study, “Preliminary Safety and Tolerability of…
A Phase 2 clinical trial is testing the effectiveness of Mestinon (pyridostigmine) — an approved medicine for another neuromuscular disease — in treating fatigue in people with spinal muscular atrophy (SMA) types 2, 3 and 4. The trial’s…
A noninvasive method of detecting the presence of the SMN protein in blood samples may become the gold standard for evaluating and monitoring new therapeutic strategies for spinal muscular atrophy (SMA), new research indicates. The study, “A new biomarker candidate for spinal muscular atrophy: Identification of a peripheral…
Researchers have identified outcome measures and biomarkers of disease progression that may allow them to differentiate between types of spinal muscular atrophy (SMA) and could be beneficial in evaluating current and future therapeutic approaches. Their findings were published in the study, “Prospective and longitudinal natural history…
