MicroRNAs isolated from the bloodstream of patients with infant-onset spinal muscular atrophy (SMA) type 1 before treatment were related to functional responses to Spinraza (nusinersen) after six months of therapy, a study suggested. Researchers said these microRNAs may be potential biomarkers to predict or monitor patients’ responses to…
A new modeling study predicts that higher doses of Spinraza (nusinersen) may improve its effectiveness compared with the approved 12 mg dose. The study used data from two clinical trials that evaluated the disease-modifying therapy in infants with spinal muscular atrophy (SMA). “The [pharmalogical] model indicates that the…
Combining two clinical assessment tools helped recognize early neurological signs in infants with spinal muscular atrophy (SMA) who were identified through a newborn screening program, a study suggested. Even in the absence of obvious clinical signs, infants typically defined as presymptomatic may have minimal signs, such as poor muscle…
MicroRNAs isolated from people with spinal muscular atrophy (SMA) types 2 and 3 before treatment predicted eventual responses to Spinraza (nusinersen) therapy, a study suggested. The study, “Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III…
The stability and self-interacting ability of SMN, the protein that is abnormally low in people with spinal muscular atrophy (SMA), may affect disease severity in rare cases, a small study suggested. Based on their findings, the researchers said new treatment strategies “should be explored” to target these factors, and…
A combined spinal muscular atrophy (SMA) therapy — one incorporating two treatments targeting different disease processes related to the SMN protein — showed improved efficacy over single treatments in a mouse model. The findings support further research into combination treatment strategies, the researchers said. A combined therapy could potentially…
In a real-world study involving more than 40 Swiss patients with spinal muscular atrophy (SMA), Spinraza (nusinersen) was found to effectively improve motor function — particularly among younger children with SMA type 1. Older treated patients gained or stabilized their motor function, but infections prompted the need for ventilation and…
The same mutation caused spinal muscular atrophy with congenital bone fractures-2 (SMABF2) in two unrelated infants of Roma descent, a case study reported. The researchers suggest genetic screening of those at risk within the Roma population. The case study, “Spinal muscular atrophy with congenital bone fractures…
Children, teenagers, and adults with later-onset spinal muscular atrophy (SMA), previously treated with Evrysdi (risdiplam), can now enroll in a new Phase 3b clinical trial to determine the efficacy of a higher dose of Spinraza (nusinersen). Biogen, the company that markets Spinraza, announced the enrollment of…
Men with spinal and bulbar muscular atrophy (SBMA) were found to have abnormally small nerves in the limbs, especially the arms, as measured by ultrasound, a study showed. These findings support the use of ultrasound as an additional tool to identify SBMA and improve selection for genetic testing, the…
