News

England’s National Institute for Health and Care Excellence (NICE) issued its final Zolgensma’s appraisal, recommending that the gene therapy be covered by the country’s national health service (NHS) and provided at low or no cost to eligible spinal muscular atrophy (SMA) patients. The positive recommendation is consistent with England NHS’…

The initial position of England’s National Institute for Health and Care Excellence (NICE) is to recommend against adding Roche’s Evrysdi (risdiplam) to the list of medications available to spinal muscular atrophy (SMA) patients through the country’s national health service (NHS). Lack of evidence of Evrysdi’s efficacy in babies genetically diagnosed…

Ahead of this year’s Rare Disease Week on Capitol Hill, held virtually July 14–22, the EveryLife Foundation will award grants to top advocates of rare disease organizations who participate in the week’s pre-events. The top 50 point-earners will be eligible to win $1,000 to $5,000in  grants, totaling up…

Asuragen’s lab test for spinal muscular atrophy (SMA) is as robust and accurate at identifying carriers of the disease and diagnosing patients as more traditional methods, a study shows. The diagnostic test — called AmplideX PCR/CE SMA Plus Kit — was validated independently in four labs and showed over…

Blood levels of a stress-induced protein are significantly higher in young spinal muscular atrophy (SMA) patients and associate with levels of a nerve cell damage biomarker, a study shows. These findings from untreated SMA patients suggest that this protein, called heat shock 70kDa protein 7 (HSP70B), may be a…

Apitegromab, Scholar Rock’s muscle-directed therapy for spinal muscular atrophy (SMA), was granted a fast track designation by the U.S. Food and Drug Administration. “We are delighted to receive Fast Track designation and look forward to working closely with the FDA towards our aim of establishing apitegromab as…

In preparation for a muscle-targeted treatment, which is currently under development by Scholar Rock for patients with SMA, we have continued to work to maintain the strength improvements Michael has made, but we have also shifted to increasing his range of motion in different joints. In the joints where Michael…

The number of copies of the “backup” SMN2 gene and a rare genetic variant in this gene influence disease severity in people with spinal muscular atrophy (SMA), according to data from more than 2,000 people involved in a free SMA genetic testing program. Launched in 2018 by…

Spinal muscular atrophy (SMA) patients may at a fourfold greater risk of hydrocephalus, or abnormal accumulation of cerebrospinal fluid (CSF) in the brain, than their healthy peers, a large U.S. health record-based study suggests. Data also showed that patients younger than 2 years, those most likely to have more severe…

Apitegromab, Scholar Rock’s muscle-directed therapy for spinal muscular atrophy (SMA), was generally safe and showed dose-dependent accumulation and clearance of the inactive form of myostatin, a muscle growth suppressor, in healthy volunteers, according to data from a Phase 1 clinical trial. These findings, published in the journal Advanced…