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Using an advanced imaging technique and complex computational algorithms, researchers have created the first detailed, 3D imaging of a group of proteins called dyneins that may lead to a better understanding of the underlying causes of spinal muscular atrophy (SMA) and other neurodegenerative diseases. Dyneins play a…

Retrophin and the U.S. subsidiary of Britain’s Horizon Pharma will each donate $3 million over a six-year period to the Rare Disease Institute (RDI) at Children’s National Health System in Washington, D.C., helping it to strengthen care available and expand as a “center of excellence” for rare…

In recognition of Rare Disease Day 2018, Bionews Services — which publishes this website — will attend and report on three relevant conferences in the U.S. dealing with policies and programs of importance to patients and their families. The three are among 50 events in 32 states…

The National Network for Excellence in Neuroscience Clinical Trials  is accelerating the clinical trial process for neurological diseases like spinal muscular atrophy with the expectation of bringing medications to market in less time, with fewer costs and less risks. Clinical studies for neurological diseases are typically long and arduous, taking many years and a lot of money to complete. As such, developing medications to treat these conditions also is long and expensive. With funding from the National Institutes of Health , and leadership from the University of Iowa, NeuroNEXT is a consortium that brings together 25 academic healthcare research institutions nationwide to facilitate and diminish costs associated with clinical trials for neurological diseases. The consortium is designed to facilitate patient recruitment, help control quality and methodological standardization across studies and to assist data-gathering in the most efficient and cost-effective way possible, which already facilitates cross-referencing and comparability of results. The consortium was funded in 2011, but results of its first trial weren't published until December 2017, in Annals of Neurology, which is a large time gap that illustrates just how much time it can take to study neurological diseases. The two-year study, “Natural history of infantile-onset spinal muscular atrophy,” led by researchers at the Ohio State University observed biomarkers that indicate infantile-onset SMA. The trial involved researchers at 15 NeuroNEXT sites and the data collected were used to inform the U.S. Food and Drug Administration (FDA) application for the approval of Spinraza (nusinersen). Looking at the natural history of 26 SMA infants and 27 controls, the data delineated meaningful change in clinical trials in infantile-onset SMA, demonstrating the power and utility of NeuroNEXT to provide “real-world,” prospective natural history data sets and accelerate public and private drug development programs for rare diseases. The gene therapy AVXS-101, being developed by AveXis for SMA, is currently in clinical trials and soon may be available, too. Ultimately the goal is to encourage more clinical trials in neurological disorders, see those trials through to completion, and ascertain if there is enough promise to go forward in drug development. NeuroNEXT focuses exclusively on Phase 2 studies, which means researchers are not looking for a definitive answer to whether a treatment is effective, but are instead seeking to learn more about a potential treatment to decide whether there is enough evidence to justify the cost and complexity of a larger, more definitive Phase 3 trial.

Scientists have discovered a new way to more efficiently deliver lower doses of gene therapies, and overcome adverse side effects that can be caused by high treatment dosages, a study suggests. The study, “Mapping the Structural Determinants Required for AAVrh.10 Transport across the Blood-Brain Barrier,” was published in the…

A rock-painting contest in Las Vegas. A fashion show in New York. A 7,000-meter race around the Washington Monument that’ll coincide with a similar #Racefor7 event in Bengaluru and Mumbai, India. From Athens to Atlanta, from San Diego to Sydney, people across the globe will mark World Rare Disease…

Approval of Spinraza (nusinersen), the first disease-modifying therapy for spinal muscular atrophy (SMA), has brought not only hope, but also some challenges for both patients and researchers, according to a recent review. The study, “Advances in therapy for spinal muscular atrophy: promises and challenges,” was published…

Japanese researchers have identified ways to measure the swallowing difficulties of people with spinal and bulbar muscular atrophy, or SBMA. Two ways in particular could be useful in clinical trials, they said. One is the amount of swallowing residue left in the pharynx — the area in the back of the throat. Another is using the penetration–aspiration scale, which measures how far residue enters the airways and how much a person can expel back out. Hallmarks of SBMA include muscle atrophy, weakness, speech problems and dysphagia, or difficulty swallowing. SBMA progresses slowly, so it takes about 10 years for swallowing difficulties to develop. Doctors use the presence of the difficulties to predict patients' disease outcomes. But until now, there have been no reliable ways of measuring how prevalent the different kinds of swallowing problems are with these patients. Researchers at Nagoya University Graduate School of Medicine hoped to rectify this. They used X-rays to do a swallowing study in 111 SBMA patients and 53 healthy controls. The goal was to learn more about the different kinds of swallowing difficulties and possible ways to treat them that could be tested in clinical trials. The team studied patients' swallowing with a videofluoroscope. Patients drank 3 milliliters of a 40 barium sulfate solution that would show up on X-rays, revealing swallowing patterns. Researchers used videotape to record the patterns. An analysis of more than 40 patients showed three common swallowing abnormalities. One was leaving swallowing residue behind the base of the tongue. Another was residue entering the nasal passage. And still another was patients being unable to move their tongue well enough while swallowing. Another finding was that four swallowing abnormality patterns were much worse in SBMA patients than in healthy controls. One was swallowing residue entering the pharynx. Another was residue staying in the mouth. Still another was patients having to swallow several times. And the other was penetration-aspiration scores. The bottom line, researchers said, was that the most common SBMA swallowing difficulties were  impaired tongue movement and residue going into nasal passages, followed by residue in the pharynx. They concluded that residue in the pharynx and penetration–aspiration scale scores could be useful ways of measuring swallowing difficulties in clinical trials, although they noted that videofluoroscopy has limitations.

Treatment with Spinraza (nusinersen) induced significant and clinically relevant motor function improvement in children with later-onset spinal muscular atrophy (SMA), final results of a Phase 3 trial show. The study detailing these results, “Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy,” appeared in The New England…

A broad range of clinical studies into AveXis’s gene therapy AVXS-101 is likely to decide whether it is indeed a “transformative” treatment for babies and children with spinal muscular atrophy (SMA) types 1-3. Five trials — ongoing or soon to start worldwide — are planned, including a study in…