Slightly more than half of spinal muscular atrophy (SMA) patients in Australia who gave feedback for a study on how well they thought their treatments worked did not notice any improvement. The researchers said the results suggest a need for better, more comprehensive healthcare. More children than adults with…
Scholar Rock’s apitegromab led to motor function improvements over a year of treatment in young adults and children with spinal muscular atrophy (SMA) type 2 or 3 who could sit independently and were on stable standard of care, but unable to walk. That’s according to…
SMA Europe has released a new documentary titled “One Community. Shared Dreams.” as part of an awareness initiative aimed at highlighting the importance of interdisciplinary collaboration among researchers to advance the understanding of spinal muscular atrophy (SMA). The documentary shares the personal stories of people around the…
A baby’s respiratory failure and need for mechanical ventilation were traced to spinal muscular atrophy with respiratory distress type 1 (SMARD1), a very rare disease, with one of her two IGHMBP2 gene mutations never before reported. “This case expanded knowledge on the genetic profile of SMARD1 and it provides…
Spinal muscular atrophy (SMA) may involve changes that occur before birth, during an embryo’s development in the womb, and not just after an infant is born, a study in cell structures suggests. This could mean that combining available disease-modifying treatments with medications that address early changes could help better…
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…
A woman with a long history of muscle weakness was found to have spinal muscular atrophy (SMA) in her late 40s, a diagnosis that was prompted by her unsteady walk and records that showed her parents were blood relatives, a case report indicates. “There are few cases reported of…
A method that uses laser light to get information from inside the body in a noninvasive way may help monitor how spinal muscular atrophy (SMA) is progressing in real time and how children are responding to therapy, a study suggests. Signals from optoacoustic imaging, which can picture how well…
EXG001-307, an investigational nerve cell-targeting gene therapy being developed by Exegenesis Bio, was well tolerated and helped a small group of young children with spinal muscular atrophy (SMA) type 1 to better control their heads and sit up on their own. That’s according to new data from a…
A young woman with spinal muscular atrophy (SMA) type 2 gave birth to a premature baby boy with the help of a multidisciplinary team despite having severe breathing problems, according to a report. The woman’s shortness of breath got worse during pregnancy and she began using…
