News

Many parents of children with neuromuscular disorders like SMA would like to see if yet-to-be-approved therapies could help them. But a lot them hesitate to let their children participate in clinical trials because they lack information on the trials’ requirements and risks, and they worry that…

AveXis’ expects to start a Phase 3 clinical trial of its spinal muscular atrophy (SMA) gene therapy AVXS-101 in Europe in May. The STR1VE-EU trial (NCT03461289) is expected to include up to 30 children under 6  months of age with type 1 SMA, the disease‘s most severe and…

All 25 pre-symptomatic infants treated with Biogen’s Spinraza (nusinersen) in a Phase 2 clinical trial of spinal muscular atrophy (SMA) did not require permanent ventilation and exhibited motor improvements, according to a preliminary analysis. The ongoing NURTURE study (NCT02386553) is assessing the effectiveness and safety of treatment…

Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference, “Rare…

The Muscular Dystrophy Association (MDA) has asked the medical data services company IQVIA to expand its disease registry into a hub of information on seven neuromuscular conditions, including spinal muscular dystrophy (SMA). The repository will include disease information from care providers, genetics data, and patient-reported information. In addition to SMA, the…

When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD,  for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…

A disruption between two molecules that transport substances to the remote ends of special nerve fibers may result in neurodegenerative disorders such as spinal muscular atrophy (SMA) or amyotrophic lateral sclerosis (ALS), a study suggests. The study, “hnRNP R and its main interactor, the noncoding RNA 7SK, coregulate…

Neurochondrin, a protein essential for nerve cells, was found to interact with the survivor motor neuron protein (SMN), whose deficiency causes spinal muscular atrophy (SMA). This finding reveals a previously unknown player and potential therapeutic target for SMA. The study “Neurochondrin interacts with…

In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…

At a time of unprecedented polarization in Congress, two U.S. lawmakers — one Republican, one Democrat — are stressing the urgency of working across the aisle to help the estimated 30 million Americans with rare diseases. Rep. Leonard Lance (R-New Jersey) and Sen. Amy Klobuchar (D-Minnesota) spoke to more…