Advocates come together for SMA Awareness Month in August
August is SMA Awareness Month, and members of the SMA community are coming together to improve disease knowledge, patient advocacy, and research funding.
News
Clinical benefit of apitegromab sustained for up to 3 years: Study
Three years of treatment with apitegromab, a muscle-targeting therapy being developed by Scholar Rock, continues to provide clinical benefit to children and young adults with spinal muscular atrophy (SMA) type 2 or 3 who are not able to walk. That’s according to long-term results from the open-label…
SMA prevalence at birth lower than thought, US study says
The prevalence of spinal muscular atrophy (SMA) at birth in the U.S. is lower than the historic global SMA birth prevalence estimate, according to data from newborn screening programs from 30 U.S. states. The findings were published as a research letter, “Newborn Screening and Birth Prevalence for Spinal…
Inflammatory signaling molecules may predict response to Spinraza
In people with spinal muscular atrophy (SMA) treated with Spinraza (nusinersen), levels of pro-inflammatory signaling molecules tend to decrease while levels of anti-inflammatory signaling molecules tend to increase in the months after starting treatment, a study has found. Findings also suggested that changes in certain inflammation-regulating molecules may…
Spinraza aids motor function for SMA children at center in China
Treatment with Spinraza (nusinersen) led to improvements in motor function for nearly all children with spinal muscular atrophy (SMA) who received the therapy at a center in China, and among children who didn’t experience improvements, motor function was generally stable with Spinraza. The findings were detailed in a…
3D-printed exoskeleton can boost effects of physical therapy for SMA
Scientists in Spain have developed an upper limb exoskeleton device and accompanying video game-based program to boost the effects of physical therapy in children with motor disabilities such as those seen in spinal muscular atrophy (SMA). The device, created with a 3D printer, was designed to be more affordable…
Researchers shed light on cellular mechanisms underlying SBMA
A team of U.S. researchers has identified cellular mechanisms that might lead to the loss of nerve cell projections in spinal and bulbar muscular atrophy (SBMA), a rare adult-onset form of the genetic disease. That’s according to a new preclinical study showing that abnormal protein clumps in the cell’s…
Fewer hospital stays, lower costs seen with year’s use of Spinraza
People with spinal muscular atrophy (SMA) who are treated with Spinraza (nusinersen) are less likely to require hospitalization or emergency medical care, and hospitalization-related costs correspondingly tend to decrease after starting on the therapy, a U.S. database study reports. The study, “Evaluation of inpatient and…
Study finds DNA contamination persists in SMA newborn screening
DNA contamination from sample processing remains a major problem in spinal muscular atrophy (SMA) newborn screening, a study reported. Researchers proposed analytic cut-off values to clearly separate samples testing positive for SMA from negative samples. Data also showed that adding a freezing step before DNA extraction led to significantly…
No significant gains seen with SMA type 1 dual therapy in real world
Following treatment with gene therapy Zolgensma (onasemnogene abeparvovec-xioi), adding a second therapy, such as Spinraza (nusinersen) or Evrysdi (risdiplam), did not prevent widespread muscle disease progression in infants at risk of spinal muscular atrophy (SMA) type 1, a real-world study found. Although children treated with a…
