The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…
The Illinois Department of Public Health (IDPH) now includes spinal muscular atrophy (SMA) as part of its newborn screening effort. The addition of SMA — the 49th disorder in the state’s screening program — means that every baby born in Illinois will be tested for the autosomal recessive…
Levels of the survival motor neuron (SMN) protein in the blood of people with spinal muscular atrophy (SMA) shows promise as a biomarker for predicting disease severity, a study reports. Specifically, SMN levels correlate with the severity of motor-neuron loss — denervation — and with the number of…
Perisynaptic Schwann cells — a specialized type of cell that helps facilitate communication between neurons and muscle cells — express specific molecular markers, which could make it easier to identify and investigate these cells, a new study has found. Better understanding these cells’ biology and function could prove…
A baby with spinal muscular atrophy (SMA) type 0 treated with both Spinraza (nusinersen) and Zolgensma is showing benefits relative to the natural course of this most severe disease form, but also limits to treatment effectiveness, a case report suggests. While the child continues to show motor improvements…
Perceptions about illness often don’t line up between children with spinal muscular atrophy (SMA) and their parents, with mothers and fathers often perceiving disease severity as worse than their children do, according to a recent study. Importantly, children’s perceptions of their disease are closely associated with their quality of…
One year of Spinraza (nusinersen) treatment safely and significantly improves motor function in children with spinal muscular atrophy (SMA) types 1 and 2, according to a real-life study in French patients. Greater motor benefits were seen among children with more severe disease and those treated earlier in life. However,…
The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…
Restoring levels of the SMN protein exclusively in nerve cells through gene therapy only partly eased symptoms and lengthened survival in a mouse model of severe spinal muscular atrophy (SMA), a study from France found. The gene therapy’s best results were observed when SMN levels were normalized systemically, or…
Mutations in a specific region of the survival motor neuron (SMN) protein cause it to lose its stability at high temperatures, leading to a loss of motor function and viability, according to a study in a fruit fly model of SMA. Future studies investigating the role of this region in…
Get regular updates to your inbox.