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The U.S. Food and Drug Administration (FDA) has approved Evrysdi — formerly known as risdiplam — as the first oral and at-home treatment for adults, children, and infants 2 months of age and older with all types of spinal muscular atrophy (SMA). With this action, Evrysdi — marketed by…
A clinical trial testing oral amifampridine phosphate in people with spinal muscular atrophy (SMA) type 3 who are able to walk is fully enrolled, Catalyst Pharmaceuticals announced in a press release. Marketed under the brand name Firdapse, amifampridine phosphate is approved in the U.S. and the…
Cure SMA has launched a new program to offer medical alert bracelets to spinal muscular atrophy (SMA) patients in the United States at no cost to the patient, according to a press release. Patients with a confirmed diagnosis of SMA are eligible for the bracelet program…
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…
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,…
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…
As we have previously discussed in earlier articles, wheelchairs play a main role in the daily lives of many patients with SMA. Over the past ten years, wheelchairs have changed for the better, and now have many customizable options available that can very much benefit the patient. Things such as…
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…
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