A first patient has been dosed in a Phase 2 clinical trial evaluating the safety and efficacy of NMD670, an oral treatment candidate for spinal muscular atrophy (SMA) type 3, its developer, NMD Pharma, announced. Called SYNAPSE-SMA (NCT05794139), the trial is now recruiting adults, ages 18 to…

A targeted test looking for mutations in known disease-associated genes in spinal muscular atrophy (SMA) was found to be a useful first step in identifying the cause of rare types of SMA, a new study reports. In fact, according to the researchers, “a total of ten patients with causative…

Researchers in Turkey have developed a new method for screening newborn blood samples for mutations associated with spinal muscular atrophy (SMA). Compared with standard techniques, the new method showed 100% accuracy for detecting SMA-positive and negative samples, they said. The scientists believe their approach, which is simpler and involves…

Scholar Rock announced that a Phase 3 clinical trial of its experimental muscle-targeting therapy apitegromab has finished enrolling children and young adults with spinal muscular atrophy (SMA) types 2 or 3, who are unable to walk but can sit independently. “Completing SAPPHIRE enrollment is a critical…

“People think bisexuals stereotypically can’t decide on which gender we want to have sex with, when the truth is, we can’t decide on anything,” someone in a group chat once joked. I laughed far longer than perhaps was appropriate, nodding along at the truth of the statement, at least in…

Note: This column contains spoilers for the musical “Wicked.”  A few weeks ago, I saw the award-winning musical “Wicked” with my sister-in-law. I saw the show back in 2012 with my parents in New York City, and I jumped at the chance to buy tickets when I saw…

The Muscular Dystrophy Association (MDA) has awarded one of 37 new research grants to a professor studying the role of survival motor neuron or SMN — the protein that’s missing in people with spinal muscular atrophy (SMA) — in disease development and treatment. Winning the three-year grant — in…

I’d just survived a car accident in Phoenix while road tripping with my parents from our home in Minnesota to the 2022 Cure SMA conference in Anaheim, California. (Long story short, my dad ran over a particularly nasty curb in a gas station parking lot. Any other vehicle…

In the SMA community, we expect to grieve the loss of our abilities, given the nature of this disease. But for me, grief often feels like an ambush. In my three decades of life, I’ve lost many abilities. And every ability lost comes with its own grieving period.