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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…

The Canadian Institutes for Health Research, a federal government agency based in Ottawa, has awarded genetics professor Kessen Patten C$627,300 to study the mechanisms involved in spinal muscular atrophy (SMA). The leading genetic cause of infant mortality, SMA is a neuromuscular disease that involves the death of lower motor neurons — the…

David Curtis Glebe, a retired 64-year-old public prosecutor now living in Millsboro, Delaware, knows he’s lucky to be alive. In mid-2013, while in Arizona, Glebe was diagnosed with pancreatic neuroendocrine cancer (PNET) — the same disease that killed Apple’s founder and CEO Steve Jobs. After three years of progress…

Researchers have uncovered the gene network regulating the transition of progenitor cells into motor neurons during the development of embryos, using chicken and mice as models. The study also sheds light on why these neurons develop faster in the embryo compared to other nerve cells. The findings may help researchers…

Scholar Rock’s SRK-015 prevented additional atrophy in mice with muscle wasting and increased healthy animals’ muscle mass and function, a study reports. The biotech company’s therapy targets the precursor to the growth factor myostatin, whose over-activation is linked to muscle atrophy. The study’s findings support SRK-015’s potential as a treatment for muscle…