After Spinraza (nusinersen) treatment for slightly longer than one year, school-aged children with spinal muscular atrophy (SMA) showed improved motor function and more independence in tasks involving their arms and hands, a study from China has found. These motor function improvements were linked to reduced symptoms of anxiety…
Gene therapy GC101 was found to rescue disease manifestations in a mouse model of spinal muscular atrophy (SMA) type 3 and to be safe in non-human primates, supporting its move into clinical testing. Genecradle Therapeutics is sponsoring ongoing Phase 1/2 clinical trials in SMA type 1 (NCT05824169),…
It can be difficult for genetic counselors in the U.S. and Canada to explain indeterminate results of prenatal screening for spinal muscular atrophy (SMA), as patients are often confused or distressed before appointments, and misunderstandings are common among both patients and doctors. Results can be indeterminate in the case…
Starting Evrysdi (risdiplam) very early — just 12 days after his birth and before his symptoms appeared — was safe and helped a boy with spinal muscular atrophy (SMA) achieve key motor milestones, such as sitting and walking, within the normal time window. Adding to clinical evidence that…
Treatment with Spinraza (nusinersen) or Evrysdi (risdiplam) may help preserve upper limb motor function in children and young adults with spinal muscular atrophy (SMA) type 2, a natural history study in Spain shows. In the study, the researchers saw that upper limb motor function, measured using a clinical…
Testing patient DNA with advanced methods like HapSMA — which can “[analyze] … SMN and its surrounding genes” — can reveal otherwise undetectable genetic changes, such as gene conversion, that affect how severe spinal muscular atrophy (SMA) is, according to a study by researchers in the Netherlands. These novel…
Children living with spinal muscular atrophy (SMA) in the U.K. can switch treatments based on practical needs and preferences without experiencing unexpected disease progression, according to a study that drew on data from the SMA REACH UK database. “The availability of treatments in the United Kingdom has fundamentally…
The parts of cells that produce energy, called mitochondria, in the skeletal muscles involved in voluntary movements don’t work properly in spinal muscular atrophy (SMA) and may contribute to the disease’s symptoms, a study in mice and cells suggests. Engaging mice in a single session of exercise or adding…
Spinraza (nusinersen) treatment may help restore balance to the levels of some lipids, fat-like molecules that are lower in the cerebrospinal fluid (CSF) of children with spinal muscular atrophy (SMA) than in healthy children, a small study found. Cerebrospinal fluid, or CSF, is the fluid around the brain…
Bulbar muscles, those of the face and throat, are affected in spinal muscular atrophy (SMA), and researchers in Germany found that young children with SMA cannot open their mouths as well as age-matched infants and toddlers without this disease. “There is a growing interest in the swallowing and the…
Get regular updates to your inbox.
