Get regular updates to your inbox.
The blood levels of neurofilaments — a marker of nerve cell damage — may serve as a disease onset and treatment response biomarker in infants with spinal muscular atrophy (SMA) type 1, but not in older patients with milder disease forms, a study suggests. These findings add to previous studies…
Novartis Gene Therapies has added thrombotic microangiopathy (TMA) — a rare condition characterized by blood abnormalities — to the list of safety concerns with use of Zolgensma in children with spinal muscular atrophy (SMA). This decision was driven by reports of six confirmed cases of TMA within one to two…
Sex and the number of copies of the “backup” SMN2 gene influence both the age of symptom onset and the risk of losing the ability to walk in people with spinal muscular atrophy (SMA) type 3, according to a Polish registry study. The data also confirmed the notion…
A decision from England’s National Institute for Health and Care Excellence (NICE) will make Spinraza (nusinersen) available to people with spinal muscular atrophy (SMA) type 3 who are unable to walk. In England, Spinraza is available through a managed access agreement (MAA) between NICE, the National Health…
Newborn screening can aid in the early diagnosis and prompt treatment of spinal muscular atrophy (SMA), which can lead to better clinical outcomes, according to a German study. “We strongly recommend that newborn screening for SMA ought to become universal in countries that provide SMA-specific medication,” the study’s researchers…
A researcher from Keele University School of Medicine in the U.K. was awarded a £99,959 ($138,633) research grant to identify and evaluate potential — and more affordable — treatments to improve the health of children with spinal muscular atrophy (SMA). The two-year research grant of the Academy of Medical…
Novartis will initiate SMART, a Phase 3b clinical study to evaluate the safety and efficacy of the one-time gene therapy Zolgensma (onasemnogene abeparvovec) in young children with spinal muscular atrophy (SMA) who weigh 8.5 to…
Ayah Lundt, a 15-month-old Danish girl with spinal muscular atrophy (SMA) type 2, is helping bring the world together as her parents race to raise $2.4 million for a single dose of Zolgensma before she…
Zolgensma may result in faster and greater functional improvements than Spinraza (nusinersen) in infants with spinal muscular atrophy (SMA) treated up to 2 years of age, according to a survey of 22 health providers in the U.S. Given the survey’s limitations, such as its small sample and subjective…
More than half of the people with rare diseases and their caregivers, asked in a survey, were undecided or less than willing to be vaccinated for COVID-19 if a vaccine was approved under emergency use authorization instead of the routine process, the EveryLife Foundation for Rare Disease reports. These findings…
Get regular updates to your inbox.