News

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…

Adults with spinal muscular atrophy (SMA) type 2 and 3 tend to report a low prevalence of non-motor symptoms, a study finds. However, some of these symptoms, such as swallowing difficulties, falling, or swelling of the legs, are reported more frequently by people with SMA than…

The work-up of cerebrospinal fluid (CSF) samples from spinal muscular atrophy (SMA) patients treated with Spinraza (nusinersen) revealed mild increases in protein content, which were attributed to lumbar punctures used for testing and to the medication’s delivery by injection into the spinal canal, a study shows.

Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.

Spinraza (nusinersen) safely stabilizes or improves motor function in older patients with spinal muscular atrophy (SMA), according to a small U.S. real-world study. Researchers also pointed out that objective measures of meaningful improvements in daily life activities are required to better determine treatment effectiveness in this patient population.

Adopting a multidisciplinary approach can optimize pretreatment evaluations and improve the dosing process for Spinraza (nusinersen) in people with spinal muscular atrophy (SMA), a U.S. study shows. This approach, which also used computer simulations to optimize treatment schedules and reduce missed treatments, improved anesthetic methods and minimized complications associated with treatment…

’Tis the season for giving thanks and celebrating the upcoming new year with family and friends. As you gather together during this festive time, it’s an excellent opportunity to help educate others about spinal muscular atrophy (SMA). You may find that people want to learn about your child’s…

A glance around the walls of Barry J. Byrne’s office reveals a lot about the pediatric cardiologist who runs the Powell Gene Therapy Center at University of Florida (UF). In one corner is an unusual painting by 9-year-old Will Barkowsky of Jacksonville, Fla. Will, the first boy with…

The U.S. Food and Drug Administration (FDA) accepted Genentech‘s application requesting approval for risdiplam, its potential oral treatment for all types of spinal muscular atrophy (SMA), and gave it priority review. An agency decision is expected on or before May 24, 2020. If approved, risdiplam would become…

Maximal voluntary isometric contraction testing (MVICT) may be a better outcome measure than the six-minute walking test (6MWT) in clinical trials involving people with spinal muscular atrophy who are able to walk without assistance, a study has found. The study, “Outcome measures in a cohort of ambulatory…