More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to converge on Washington, D.C., next month for the 2018 NORD Rare Diseases & Orphan Products Breakthrough Summit. The Oct. 15-16 event, sponsored by the National Organization for Rare Diseases (NORD), takes place at the…
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Researchers have validated three potential spinal muscular atrophy blood biomarkers as able to measure disease severity in mouse models of severe and intermediate forms of SMA. But the three do not appear to allow for monitoring of treatment response. The study, “Evaluation of potential effects of Plastin 3…
Polish orthopedic surgeon Tomasz Potaczek says people with spinal muscular atrophy (SMA) who have had surgery to correct scoliosis are routinely denied access to Spinraza (nusinersen) because of the difficulty in administering the injections intrathecally (via the spinal canal). To correct what he calls this “injustice,” Potaczek has…
Parents of children with spinal muscular atrophy (SMA) — as well as doctors — often don’t give enough importance to the role good nutrition plays in improving patients’ quality of life, said a leading Polish SMA expert. Eva Toporowska, a pediatric gastroenterologist at the Medical University of Lodz, spoke on “Diet and…
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…
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…
