NICE Favors Zolgensma Being Added to England’s Public Health Program
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...
NICE Initially Against Adding Evrysdi to UK Public Health System
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...
Advocates Can Try for Grants Ahead of Rare Disease Week on Capitol Hill
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...
Asuragen’s Lab Test Can Speed Up Diagnosis of SMA Carriers, Patients
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...
Stress-induced Protein May Serve as New SMA Biomarker in Infants
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...
Muscle-directed Therapy Apitegromab Put on FDA’s Fast Track
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...
Improving Muscle Length to Prepare For Future SMA Muscle Targeted Therapy
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...
SMN2 Copy Number and Rare Variant Influence SMA Severity
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...
SMA May Carry Higher Risk of Fluid Buildup in Brain, Study Finds
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...
Apitegromab Safely Counters Muscle Growth Suppressor, Phase 1 Trial Finds
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...
Cure SMA Offers US Patients Free Tools to Boost Their Independence
Cure SMA is offering free “independence assistance packages” to teenagers and adults with spinal muscular atrophy (SMA) in the U.S. to assist with everyday living or to help make living on their own possible. The Teen & Adult Independence Assistance Package is...
Neurofilaments May Not Be Biomarker for Older Patients
The blood levels of neurofilaments — a marker of nerve cell damage — may serve as a disease onset and treatment response biomarker in infants with spinal muscular atrophy (SMA) type 1, but not in older patients with milder disease forms, a study suggests. These...
