Treatment with two distinct molecules targeting the “backup” SMN2 gene resulted in higher levels of SMN — the protein lacking in spinal muscular atrophy (SMA) — and longer survival in a mouse model of type 1 disease relative to the use of a single therapy. Notably, these benefits, which included the…

Photo courtesy of Michael Garcia Day 24 of 31 This is Michael Garcia’s (@teacher.mike72) story: I believe in miracles. I believe in God. I believe in his will both on earth and in heaven. Nearly two years ago, we contacted our family pediatrician to inform him that our…

Photo courtesy of Bryarly Parker Day 19 of 31 This is Bryarly Parker’s (@movingmountainsformightymax) story: Max was diagnosed with SMA type 2 on Nov. 24, 2020, in Alberta, Canada, when he was 22 months old. We realized something was wrong when he stopped weight-bearing, was barely moving…

Photo courtesy of Sarbjot Kaur Day 17 of 31 This is Sarbjot Kaur’s story: Mehtab, whose name means moonlight, is our cheerful, adorable, and compassionate 4-year-old son. He loves playing with superheroes, dinosaurs, and Legos — his favorites are Black Panther, Batman, and T. rex. After numerous visits to…

The U.S. Food and Drug Administration (FDA) has lifted its partial hold on clinical trials of OAV-101 (AVXS-101), an investigational intrathecal gene therapy for the treatment of spinal muscular atrophy (SMA). The agency put a hold on the open-label clinical trial STRONG in 2019, citing concerns seen in…

To better understand and address barriers to the implementation of newborn screening across Canada for spinal muscular atrophy (SMA), Muscular Dystrophy Canada (MDC) has awarded more than $700,000 to projects in three provinces. This is the first round of awards to come from a collaboration between MDC…

Novartis is stopping the clinical development of branaplam (LMI070), its experimental oral treatment for spinal muscular atrophy (SMA) being evaluated in a Phase 1/2 clinical trial. According to the company’s announcement, this “difficult” decision was based on the “rapid advancements in the SMA treatment landscape in recent years,” and…

SadBaby, an organization that raises donations to support children with spinal muscular atrophy (SMA), is launching a crowdfunding platform. The project, based on digital currency donations, intends to gather funds from supporters and investors to help families financially with the costly treatments associated with SMA. “SadBaby is doing…

The UK SMA Newborn Screening Alliance is calling on people to take action and sign a petition requesting that spinal muscular atrophy (SMA) to be added to the U.K.’s National Health System (NHS) newborn screening program and funded. U.K. citizens and residents can sign the petition, which is collecting…

Newborn screening (NBS) for spinal muscular atrophy (SMA) in Massachusetts allowed for early detection and treatment of affected infants, with most referred to a specialist within the first week of life, three-year data from the state’s SMA screening program show. Notably, the program used a tiered algorithm with screenings that…