A rare instance of a child with both spinal muscular atrophy (SMA) and Farber disease, associated with two new mutations in the ASAH1 gene, is detailed in a case report. Its team suggested that Farber, a rare disorder caused by ASAH1 mutations, should be considered and tested for in…
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Combining Spinraza (nusinersen) with the gene therapy Zolgensma (onasemnogene abeparvovec-xioi) is generally well-tolerated and sustains motor improvements in children with spinal muscular atrophy (SMA) type 1, according to a case series study. The data, which included children treated with Zolgensma at older ages than those reported in clinical trials, suggested…
A new panel of four safety biomarkers to assess acute drug-induced skeletal muscle injury in Phase 1 clinical trials has received a positive response from the U.S. Food and Drug Administration (FDA). The new biomarker panel is particularly important for companies developing therapies for patients with neuromuscular diseases, including…
In cell- and mouse-based models of spinal muscular atrophy (SMA), reduced levels of the SMN protein — a hallmark of the disease — altered both the calpain enzyme system and autophagy, two major regulatory pathways of the cell, a study has discovered. …
People with type 2 spinal muscular atrophy (SMA) show the greatest loss of motor abilities on the Hammersmith Functional Motor Scale Expanded (HFMSE) between the ages of 5 and 13, and the greatest gains in those age 4 or younger, according to a recent natural history study. The motor…
Biogen has announced plans to launch a Phase 4 clinical trial evaluating the benefits of Spinraza (nusinersen) in infants and children with spinal muscular atrophy (SMA) who were previously treated with the gene therapy Zolgensma (onasemnogene abeparvovec-xioi). The company expects to enroll the first patients in…
The University of Birmingham has begun a study to gauge the impact of the COVID-19 pandemic on adults in the United Kingdom (UK) with neurological diseases, such as spinal muscular atrophy (SMA), that affect mobility. The series of online surveys, to be completed over 12 months, are…
Spinraza significantly eased fatigue in adults with spinal muscular atrophy (SMA) after six months of treatment, as measured by the patient-reported Fatigue Severity Scale (FSS), a small study found. But this relief was no longer statistically significant after 10 months, its…
Identifying those spinal muscular atrophy (SMA) patients who will benefit most from treatment with Zolgensma requires more than assessing traditional SMA types, according to a consensus statement from a panel of European experts. The statement covers 11 points, and highlights that clinical trials of Zolgensma to date involved a…
The Iowa Department of Public Health has begun a pilot effort to screen newborns for spinal muscular atrophy (SMA). Babies born in Iowa are now being screened for more than 40 inherited disorders, with a goal of identifying conditions that, if caught early, can be treated or cured.
