The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over two years after the European Union decided to relocate the EMA to the Netherlands in the wake of Brexit.
Muscle-specific microRNAs, small DNA-related molecules detectable in blood tests, may be biomarkers of disease progression and response to therapy in children with spinal muscular atrophy (SMA), a small study suggests. The levels of several muscle microRNAs (miRNAs) in children with SMA type 2 and type 3…
R-Roscovitine, a small molecule that promotes calcium entry in nerve cells, restored neuron-muscle communication, reduced the loss of motor neurons, and prolonged the survival of mice with spinal muscular atrophy (SMA), a study reports. The researchers said this molecule could be used to support other SMA…
Because babies with type 1 spinal muscular atrophy (SMA) develop serious swallowing problems at different ages, the decision to switch from oral to tube feeding should be tailored for each child, researchers in South Korea suggest. Their study, “Trajectory of change in the swallowing status in…
Kevin Schaefer hadn’t been in an airport since he was 4 years old, so he had been looking forward to flying from his home in Cary, North Carolina, to Anaheim, California, in June for the 2019 Cure SMA Conference. As it turned out, his experience didn’t go as expected.
Researchers in China report having developed a method that was fast, effective, and reliable in newborn screening (NBS) for spinal muscular atrophy (SMA). The results, “Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass Spectrometry,” were published in the journal Frontiers in…
Genentech announced, without providing details, positive topline results from the pivotal second part of its FIREFISH clinical trial of risdiplam, now before the U.S. Food and Drug Administration for approval. The company said in its release that risdiplam demonstrated statistically significant and medically meaningful motor milestone improvement…
Researchers have discovered a potential new genetic modifier that can influence the course and severity of spinal muscular atrophy (SMA), according to a recent case study. The findings may help shed light on how two members of the same family may be affected by different forms of the disease,…
A panel of experts has developed a new treatment algorithm for infants diagnosed with spinal muscular atrophy (SMA) via newborn screening, a study reports. Such newborn screens are vital because outcomes for SMA improve dramatically if therapy begins within the first few days of life, the…
Analysis of the protein levels in the cerebrospinal fluid (CSF) of people with late-onset spinal muscular atrophy (SMA) may help to identify biomarkers that not only monitor but also predict Spinraza responses, a study suggests. The results of the study, “Cerebrospinal fluid proteomic profiling…
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