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…
Targeted next generation sequencing (NGS) — a powerful genetics method that can identify mutations in several genes simultaneously — may help diagnose people with spinal muscular atrophy (SMA)-like symptoms who do not carry SMA-causative mutations, a Japanese study shows. This low-cost, non-invasive, fast, and efficient approach might be…
SRK-015, an investigational treatment designed to improve muscle strength and motor function in people with spinal muscular atrophy (SMA), interacts with its intended target in a dose-dependent manner, increasing by up to 100-fold the levels of latent myostatin in the blood, according to preliminary data from a Phase…
The levels of neurofilament heavy chain and tau — two proteins commonly used as biomarkers of nerve cell degeneration in several neurodegenerative disorders — may not be useful as biomarkers to evaluate neurodegeneration during the initial stages of treatment with Spinraza in people with spinal muscular atrophy (SMA) …
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