News

Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…

As of this May, all babies born in North Carolina are now being tested at birth for spinal muscular atrophy (SMA). Newborn screening involves genetic testing of infants immediately after birth for mutations that are known causes of diseases like SMA — the most common cause of mortality in…

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…

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…