News

Gyula Acsadi is an expert in three of the world’s most expensive rare illnesses to treat: spinal muscular atrophy (SMA), Duchenne muscular dystrophy (DMD), and Pompe disease. Acsadi, head of neurology and rehabilitation at Connecticut Children’s Medical Center in Hartford, said he’s convinced that new therapies for these…

Genomic Vision and Quest Diagnostics have agreed to extend their collaboration focusing on the potential development of new biomarkers to improve genetic diagnosis of spinal muscular atrophy. The partners will accelerate the pace of their efforts to identify new biomarkers with the possibility of detecting SMA “2+0” carrier status, referring to carriers who have two survival motor neuron 1 gene copies on one chromosome and none on the other. The identification of this rare form of mutation would lead to improved sensitivity in SMA screening. This announcement follows previous research by the two companies that demonstrated evidence that this pattern could be detected by molecular combing, a user-friendly technique that allows DNA to be analyzed at the single molecule level. Although healthy parents of a child with SMA carry the SMN1 gene defect, they do not have any symptoms of the disease. A carrier with the 2+0 pattern cannot be distinguished from a noncarrier, and test results may not reliably identify this particular carrier status. Genomic Vision has pioneered a molecular combing system that could potentially detect this pattern and reliably identify carrier status. This test stretches and assembles millions of large DNA fragments in a single step. The resulting DNA is organized in discrete strands, allowing for analysis at the single molecule level. Under the new agreement, Quest will be solely responsible for developing, validating, and offering new lab tests.

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…