Meaningful further improvements in motor skills were evident with apitegromab treatment in later-onset spinal muscular atrophy (SMA) patients on maintenance doses of Spinraza (nusinersen), updated Phase 2 TOPAZ trial findings show. “The TOPAZ results show that apitegromab has promising potential to benefit the large portion of individuals with SMA who still…
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Evrysdi (risdiplam) continues to be linked to motor function improvements in a broad range of people with spinal muscular atrophy (SMA), according to recent data from two ongoing Phase 2 clinical trials. These data were presented at the 2021 Virtual SMA Research & Clinical Care Meeting. Presymptomatic…
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…
Note: This story was updated on June 21, 2021, to clarify that these genetic tests are after a baby’s birth, and the Early Check study showed the importance of parents consenting prenatally to testing. As of this May, all babies born in North Carolina are now being tested at…
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…
