Subcutaneous administration of a new class of antisense oligonucleotide (ASO) compounds called tricyclo-DNA may be an efficient therapy for spinal muscular atrophy (SMA), according to a study in mice. SMA is an inherited disorder caused by mutations in a gene called SMN1 that encodes the protein SMN. The absence…
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Biogen’s Spinraza (nusinersen), an expensive but lifesaving medication for thousands of babies born with spinal muscular atrophy (SMA), is becoming available to more and more Americans as private and government health insurers either cover it or ease coverage restrictions. Eighty percent of Americans with private health insurance, and 60 percent…
A year’s worth of salbutamol improved the breathing function and respiratory muscle strength of children with spinal muscular atrophy, according to a small-sample study. The research, “Effect of Salbutamol on Respiratory Muscle Strength in Spinal Muscular Atrophy,” was published in Pediatric Neurology. Previous studies had shown that oral…
Families living with spinal muscular atrophy (SMA), like most people, favor screening for genetic disorders. Yet those who lack experience with SMA generally take a far more negative view of the disease. That’s according to a new study, “The role of experiential knowledge within attitudes towards genetic carrier screening: A…
Quest Diagnostics has launched a new screening test to assess the possibility that parents carry genes that might cause spinal muscular atrophy (SMA) and a range of other diseases in their future children. The test, called QHerit, takes into account that people today often have a mixed ethnic…
A lack of familiarity with spinal muscular atrophy (SMA) type 1 among primary health care staff often makes caring for infants with the disease a stressful experience for families, finds a study that explored how parents perceived various care settings, including emergency, hospitals and clinical care. The study, “The Experience…
The national nonprofit spinal muscular atrophy (SMA) support and advocacy organization Cure SMA has launched a grassroots campaign to have required newborn-screening for SMA in every state. The campaign was announced at the 2017 Annual SMA Conference held June 29-July 2 in Orlando, Florida. It was attended by more…
Cytokinetics revealed preliminary data on the characteristics of patients with spinal muscular atrophy (SMA) screened for a Phase 2 trial to investigate the safety, tolerability and pharmacokinetics of CK-2127107. Data were presented by Cytokinetics’ director of clinical research, Stacy Rudnicki, MD, at the Cure SMA 2017 Annual SMA Conference in Orlando,…
Preliminary results from a phase 2 trial confirm that the investigational drug RG7916 targets the underlying genetic cause of type 2 and type 3 spinal muscular atrophy (SMA), PTC Therapeutics has announced. RG7916 is an oral drug that modulates the splicing of the SMN2 gene to increase production…
Spinraza (nusinersen) was just approved by Health Canada for the treatment of 5q spinal muscular atrophy (SMA) patients, Biogen Canada announced. This is the first therapy approved by Health Canada for the treatment of SMA. The drug is specifically indicated to treat 5q SMA, which represents about…
