[Editor’s note: An earlier version of this story did not specify in its opening statement that Spinraza’s use in this proposed trial would follow Evrysdi’s use.] Biogen plans to launch a Phase 3b trial into the safety and efficacy of a higher dose of Spinraza (nusinersen) in children,…
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Blood levels of neurofilament light chain (NfL) — a marker of nerve cell damage — in children and adolescents with spinal muscular atrophy (SMA) are significantly higher than those of age-matched healthy peers and associate with disease severity, a study found. NfL blood levels also reliably reflect levels in…
A newly launched non-profit institute is seeking to advance research, and the development of new therapies, for people with rare diseases — a patient community with some of the largest therapeutic needs, but one that is often left behind. Named the Institute for Life Changing Medicines, the project was…
A naturally occurring form of the androgen receptor protein — which scientists have named AR45 because of its size — may be useful for treating spinal and bulbar muscular atrophy (SBMA), a rare form of adult-onset spinal muscular atrophy, a new study suggests.
Cure SMA and Cytokinetics have extended a partnership helping to heighten spinal muscular atrophy (SMA) education, awareness and fundraising, and t0 direct public policy in addressing community needs. To that end, the biopharmaceutical company will again be a National Gold Sponsor of some upcoming Cure SMA efforts…
Participation in clinical trials exposes rare disease patients to financial, physical, and emotional pressures, according to the results of a patient focus group series. “Rare disease trial participants are running an endurance race they are highly motivated to complete, but these incremental burdens negatively impact their ability or willingness to…
A branch of the Canadian Agency for Drugs and Technologies in Health (CADTH) is recommending that Evrysdi (risdiplam) be added to public health plans across Canada, making it available to spinal muscular atrophy (SMA) patients at low or no cost between 2 months and 25 years of age, provided…
The first-ever case of someone in Romania with spinal muscular atrophy (SMA) caused by a mutation in the ASAH1 gene was described in a recent report. The study, “Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency,” was published in the …
Treatment with two distinct molecules targeting the “backup” SMN2 gene resulted in higher levels of SMN — the protein lacking in spinal muscular atrophy (SMA) — and longer survival in a mouse model of type 1 disease relative to the use of a single therapy. Notably, these benefits, which included the…
The National Organization for Rare Disorders, known as NORD, was named an official charity partner of the 2021 TCS New York City Marathon, which will be held Nov. 7 both in-person and online. “Supporting charitable causes and organizations are a long-standing tradition of the TCS New York City…
