News

The National Organization for Rare Disorders (NORD) says it’s “disappointed and dismayed” after the House of Representatives voted 227-205 last week to repeal the Orphan Drug Tax Credit as part of a U.S. tax reform package. A similar package before the Senate Finance Committee does not repeal the credit…

Spinal muscular atrophy advocates have asked American regulatory officials to add SMA to the list of genetic conditions the federal government thinks newborns should be screened for. The request came in a meeting between the advocates and the government’s Advisory Committee on Heritable Disorders in Newborns and Children on Nov. 8.

Defects in our cells’ natural cleaning system — called autophagy — may be a trigger for the development of motor neuron diseases such as spinal muscular atrophy (SMA), researchers at the University of Würzburg, Germany, suggest. Their study, “Plekhg5-regulated autophagy of synaptic vesicles reveals a pathogenic mechanism in motoneuron…

Researchers from Northeastern University’s Center for Complex Network Research in Boston showed for the first time that they can predict and accurately identify the brain mechanisms involved in movement control, in an animal model. These findings may provide new insights on the cellular mechanism involved in spinal muscular atrophy (SMA) and other movement disorders. Using worms (Caenorhabditis elegans) as a model to better understand the human brain, the team demonstrated that a mathematical model they developed could characterize all the connections the worms needed to control movement. A team of researchers attempted to understand how the human brain controls each of its communication mechanisms. Taking advantage of the simple neurological system of worms, the team mapped all communications between neurons and muscles, and developed what it called the “connectome." Based on this model, they predicted which specific cells would regulate each of the worm's  movements. Working with researchers at the Medical Research Council in Cambridge, England, the team validated its predictions. By killing the individual nerve cells with a laser previously related to each movement, they showed how the worm would lose that specific movement. This study demonstrates for the first time that it may be possible to pinpoint the mechanisms and individual cells involved in movement control. Translating the worm model into the human brain may change the lives of SMA patients and others with movement disorders.

A Phase 3 clinical trial to evaluating the safety and efficacy of an investigational gene replacement therapy by AveXis is now recruiting infants with spinal muscular atrophy type 1. The trial of AVXS-101 is seeking patients younger than six months of age. Participants must have a genetic mutation analysis confirming SMA type 1 diagnosis, according to a news release from the Muscular Dystrophy Association. AVXS-101 is designed to specifically deliver the fully functional human SMN gene to motor neurons, which SMA patients lack. This will restore normal levels of survival motor neuron protein in these nerve cells, allowing them to properly control muscle activity and improve strength and function. Results of a Phase 1 study showed that the motor functions of babies with SMA type 1 show clinically meaningful improvements after one single intravenous infusion. Eight of the 15 infants treated with AVXS-101 were able to sit without assistance and two could crawl, stand or walk independently — all abilities never seen in untreated SMA infants. The U.S. Food and Drug Administration has granted AVXS-101 Orphan Drug Designation to treat all types of SMA. AVXS-101 has also received Breakthrough Therapy Designation and Fast Track Designation to treat SMA Type 1. Both will speed up the drug's clinical development and potential approval. The STR1VE study is an open-label Phase 3 trial to evaluate the impact of AVXS-101 on children’s development and overall survival. It will likely include 15 infants with genetically confirmed non-functional SMN1 gene, but with one or two copies of the SMN2 gene. The study — to be conducted at clinics in California, Colorado, Illinois, Maryland, New York, Ohio and Oregon — will evaluate patients' capacity to sit by themselves at 18 months of age, as well as their ability to breathe without additional support upon receiving one injection of AVXS-101. All required clinical visits, tests and additional treatments will be provided to participants at no cost, as well as travel assistance for families who don't live near any of the study sites. For additional information on the STR1VE trial, please visit the study website or the study registry page. To participate, contact the trial coordinator at the nearest site.

Invitae presented data that supports combining genetic sequencing with platforms that detect copy number variant (CNV) as a way of diagnosing neuromuscular disorders — such as spinal muscular atrophy — and one superior to genetic sequencing alone. The results were in one of the 15 posters Invitae, a genetic information…

Spinraza (nusinersen) was granted the 2017 Prix Galien USA Award for Best Biotechnology Product in recognition of its achievement in scientific innovation for the treatment of spinal muscular atrophy (SMA), Biogen and Ionis announced. The award was presented at a ceremony in New York City,…

A large-scale study analyzing genetic screening for biomarkers associated with spinal muscular atrophy (SMA), cystic fibrosis (CF), and fragile X syndrome (FXS) adds new insights on the incidence of these genetic markers. The study, published in the journal Genetics in Medicine, also…

Children’s National Health System no longer treats just kids. Its Rare Disease Institute, launched in April 2017, has partnered with the National Organization for Rare Disorders (NORD) to become the first of many U.S. “centers of excellence” to look after patients with rare diseases, regardless of age. The effort…

Children with spinal muscular atrophy (SMA) type 1, who likely would have died before age 2 only a few years back, were seen  to walk after being treated with Spinraza (nusinersen). This approved therapy, and others with the potential to one day be a treatment option — like a…