News

Despite recent treatment advances, feeding difficulties are still one of the most common complications for infants with spinal muscular atrophy (SMA) type 1, an observational study has found. The study, “Feeding and Swallowing Problems in Infants with Spinal Muscular Atrophy Type 1: an…

A planned six-month interim analysis of a Phase 2 study of SRK-015 in children and adults with spinal muscular atrophy (SMA) will be delayed by about three months due to the COVID-19 pandemic, with early data now expected by year’s end, Scholar Rock announced. The TOPAZ clinical trial…

Spinraza (nusinersen) improves muscle strength, endurance, and independence in adults with spinal muscular atrophy (SMA), meeting most of their positive expectations, a small, real-world study in Germany has shown. The data also showed that patients reported greater improvements than those observed with objective motor function measures, suggesting that…

The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. Survey questions cover a patient’s physical and mental health, supply of treatments, and access to healthcare, among…

Spinal fusion surgery — a procedure to fuse two or more spine vertebrae — is more successful at reducing spine curvature in children with spinal muscular atrophy (SMA) type 1 and 2  if they have previously been given growth-friendly spinal implants, a study reports. But the…

Shift Pharmaceuticals said its investigational lead therapy E1v1.11 has been granted orphan drug designation by the U.S. Food and Drug Administration (FDA) as a potential treatment option for spinal muscular atrophy (SMA). SMA is caused by mutations in the survival motor neuron 1 (SMN1) gene, which leads to…

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…

As newborn screening for spinal muscular atrophy (SMA) becomes more common, ethical dilemmas will arise about the best treatment strategy for individuals with four copies of the SMN2 gene, a new study contends. The study, “Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn…

With the pandemic occurring around us, there have been many changes for everyone in everyday life. Physical Therapy is an essential medical practice and has stayed open during this pandemic, but there have been changes made to protect us and our patients. We have patients, such as Michael, our patient…

Young children given a single injection of Zolgensma into the spinal canal continue to show gains in motor function and safety, new interim data from the STRONG trial in spinal muscular atrophy (SMA) type 2 patients up to age 5 show. These findings from the open-label Phase 1/2 clinical…