News

CANbridge Pharmaceuticals is planning to ask the U.S. Food and Drug Administration for permission to launch, by the end of 2024, clinical trials of its second-generation gene therapy candidate for spinal muscular atrophy (SMA). That request — for clearance for first-in-human studies — will come in the form…

A young boy and three of his relatives were found to carry a new mutation that was the likely cause of their spinal muscular atrophy with lower extremity predominance, known as SMA-LED, according to a report from China. Researchers mapped the mutation to the DYNC1H1 gene, which has been…

A single gene-editing treatment that converts the SMN2 gene into a functioning copy of SMN1 increased levels of the SMN protein that is lacking in spinal muscular atrophy (SMA), bringing better motor function to a mouse model of the disease, a study reported. Combined with Spinraza (nusinersen), an…

The one-time gene therapy Zolgensma (onasemnogene abeparvovec-xioi) can improve motor outcomes for children with spinal muscular atrophy (SMA) effectively, especially when it’s given in the first months of life, a review paper shows. “There is substantial evidence of improved outcomes when Zolgensma is administered early to children under…

A group of proteins called the SNARE complex, which normally helps regulate how nerve cells receive chemical messages from other nerves, is disrupted in spinal muscular atrophy (SMA), according to a study with mouse models. The findings suggest a deficiency in SMN, the protein missing in SMA, may impact…

Evrysdi (risdiplam) may be associated with longer survival and more motor function gains than Spinraza (nusinersen) in children with spinal muscular atrophy (SMA) type 1, according to an indirect comparison of clinical trial data. Sponsored by Roche — which markets Evrysdi — the analysis “leverages the longest…

Most spinal muscular atrophy (SMA) patients with four or more copies of the backup SMN2 gene achieved or maintained motor milestones after treatment with Zolgensma (onasemnogene abeparvovec), according to real-world data from the RESTORE patient registry. The one-time gene therapy from Novartis was also found safe in these…

Treatment with apitegromab for two years continues to stabilize or improve measures of motor function, fatigue, and life quality in children and young adults with spinal muscular atrophy types 2 and 3 who are not able to walk. That’s according to data from the TOPAZ clinical trial…

Children with spinal muscular atrophy (SMA) given Zolgensma (onasemnogene abeparvovec-xioi) gene therapy in clinical trials are maintaining, years later, the motor milestones they achieved in the original studies — and some have hit additional milestones even without further treatment. That’s according to data from long-term follow-up (LTFU) studies…

Motor function is still stable or improved among people with spinal muscular atrophy (SMA) types 2 and 3 after four years of treatment with Evrysdi (risdiplam), according to updated results from the SUNFISH clinical trial. Patients and caregivers also reported continuous improvement or stabilization in the level of…