nusinersen

ventilator

Ventilatory Requirements Unchanged After Nusinersen Treatment in Children With SMA

Children with spinal muscular atrophy (SMA) who need ventilatory support will usually need the same level of support before and after gene-based treatment, a new study published in Children found. This is the case whether they are receiving respiratory support noninvasively or via a tracheostomy.  To assess whether novel treatments such as gene-based therapies like…

counseling session

Parents of Children With SMA Report Unmet Needs

Researchers found that parents of children and adolescents diagnosed with spinal muscular atrophy (SMA) experience a number of psychological stressors, as published in the Orphanet Journal of Rare Diseases. SMA is a rare disease that causes progressive muscle wasting and weakness. It is also a major genetic cause of death among neonates. There are 2…

First Patient Enrolled in Trial Assessing Taldefgrobep Alfa for SMA

The first patient with spinal muscle atrophy (SMA) enrolled in Biohaven’s phase 3 trial of taldefgrobep alfa has been reported. The placebo-controlled, double-blind, randomized RESILIENT trial is designed to evaluate the efficacy and safety of taldefgrobep as an adjunctive treatment for individuals who are already receiving a stable dose of nusinersen or risdiplam, or who…

Valproic Acid Affects Efficacy of Nusinersen in SMA Study

The histone deacetylase inhibitor valproic acid cooperates with nusinersen-like antisense oligonucleotides to promote the inclusion of exon 7 and transcriptional elongation from the SMN2 gene, which means that more functional SMN protein can be made from the SMN2 gene. This approach could increase the efficacy of nusinersen and other antisense oligonucleotides for the treatment of…

Nusinersen Combined With Physical Therapy Enhances SMA Treatment

Routine physical therapy (PT) improved motor skills by almost 4-fold when combined with nusinersen treatment compared to nusinersen treatment alone in patients with spinal muscular atrophy (SMA), according to findings published in Frontiers in Bioscience (Landmark Edition). SMA causes the deterioration of motor neurons, resulting in muscle weakness and decreased functional movement. In 2016, the…

sequencing

Blood MicroRNAs Useful in Monitoring Efficacy of SMA Treatment

Blood microRNAs could be used as biomarkers to indicate the response of patients with spinal muscular atrophy (SMA) to treatment with nusinersen as well as to monitor the efficacy of the treatment, according to a new study published in the Annals of Clinical and Translational Neurology. “Some of these microRNAs provide insight into processes involved…

intravenous medicine

Poor Response to Nusinersen May Predict Benefit From Onasemnogene Abeparvovec

Patients with spinal muscular atrophy (SMA) who respond poorly to nusinersen may respond the most favorably to onasemnogene abeparvovec, according to a new study published in Gene Therapy. Alternatively, the age of the patient at the time treatment is started may influence his or her response to onasemnogene abeparvovec. These hypotheses must be tested in…

data

Researchers Find Large Quantity of Data on SMA Outcomes Missing

Researchers investigated the mid- and long-term clinical outcomes of patients with spinal muscular atrophy (SMA) on nusinersen, onasemnogene abeparvovec, risdiplam, or combination therapies, and found that large amounts of data were missing, hampering their ability to adequately compare the drugs, as published in the European Journal of Pediatric Neurology. The introduction of disease-modifying therapies in…

gene test

Antisense Oligonucleotides Show Unanticipated Effects in SMA

Using antisense oligonucleotides in combination or in higher concentration to treat spinal muscular atrophy (SMA) may actually be detrimental, according to a new study published in Genes. The results show that antisense oligonucleotides used in combination or at high concentration seem to reduce the rate of splicing and lead to the formation of cryptic exons…

statistical graph

Study Supports Efficacy of Nusinersen in Adults With SMA

Positive efficacy and safety results with nursinersen treatment at 6 and 14 months of follow-up in adult patients with spinal muscular atrophy (SMA) were recently reported in a study published in Neuromuscular Disorders. The researchers found increases in the baseline Medical Research Council (MRC) strength scale and the median revised Hammersmith scale (RHS) scores. “We…

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