When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience. Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children with…
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[Editor’s Note: This is part of a series of articles into the discovery and development of Evrysdi, SMA’s newly approved disease-modifying therapy and its first oral and at-home one, as well as the scope of SMA issues and treatments. Here, we talk with scientists about how this…
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 EU…
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 and…
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…
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…
