Author Archives: Margarida Maia PhD

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…

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…

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 the 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…

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…

Infants with a genetic diagnosis of spinal muscular atrophy (SMA) type 1 who were treated with Evrysdi (risdiplam) or Spinraza (nusinersen) in addition to Zolgensma (onasemnogene abeparvovec) could sit, but not walk, sooner than those on Zolgensma alone. These are the findings of a small study in…

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 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…

Researchers have developed a two-dimensional (2D) model that mimics the crosstalk between nerve and muscle cells. They intend to use it to screen large numbers of compounds in the hunt for treatments for spinal muscular atrophy (SMA) and other neuromuscular diseases. “We want to start by seeing if we…