News

The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues in a nod to its increased use during the ongoing COVID-19 pandemic. NORD’s report card project began seven…

As part of ongoing efforts to have all newborns in the U.K. screened for spinal muscular atrophy (SMA), Muscular Dystrophy UK (MDUK) recently met with an ad hoc Scottish group to hear from parents and clinicians about life with SMA and the benefits of early diagnoses. The meeting, hosted…

Novartis Gene Therapies is expanding its manufacturing capacity for Zolgensma (onasemnogene abeparvovec) — its disease-modifying gene therapy for spinal muscular atrophy (SMA) — after its commercial licensure approval was approved by the U.S. Food and Drug Administration (FDA). The approval will allow the company to produce, test and…

The same mutation caused spinal muscular atrophy with congenital bone fractures-2 (SMABF2) in two unrelated infants of Roma descent, a case study reported. The researchers suggest genetic screening of those at risk within the Roma population. The case study, “Spinal muscular atrophy with congenital bone fractures…

Verana Health has launched a service called Neurology Qdata, which contains disease-specific datasets to help facilitate neuroscience research and develop novel treatment strategies. The new resource was announced recently at the annual meeting of the American Academy of Neurology (AAN) in Seattle, Washington. The first module to launch, called…

A couple of nonprofits in the U.K. will jointly sponsor a PhD student’s research into the mechanisms underlying nerve degeneration and potential treatment approaches for spinal muscular atrophy (SMA). Totaling £113,022 (nearly $150,000) and funded evenly by Spinal Muscular Atrophy UK (SMA UK) and Muscular Dystrophy UK (MDUK),…

In children with spinal muscular atrophy (SMA) who begin treatment with Spinraza (nusinersen) after they are 2 months old, levels of a protein called cathepsin D in the fluid around the brain decline over time. This decline tends to be more pronounced in those who respond better to…

A newborn screening program for spinal muscular atrophy (SMA) in Latvia can diagnose babies within two weeks of birth, according to a new study. The study, “New-Born Screening for Spinal Muscular Atrophy: Results of a Latvian Pilot Study,” was published in the International Journal of Neonatal…

The availability of early genetic testing and approval of several spinal muscular atrophy (SMA) treatments has dramatically changed disease outcomes, while introducing ethical issues in terms of screening, predicting SMA severity, and patient access to therapy. As such, appropriate information and support should be given to parents and patients…

Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over the next five years, according to results from a 2021 survey. Definitive Healthcare, a healthcare commercial intelligence company, conducted…