News

Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about how their respective organizations came to be, as well as the benefits of creating patient registries and how they can help…

An analysis of prenatal mice embryos carrying genetic mutations that cause severe cases of spinal muscular atrophy (SMA) found overall developmental growth delays and changes in protein production in all organs assessed before birth, a study reported.  The findings support the…

By taking advantage of a natural process of gene silencing, a new gene therapy approach appears to prevent the toxicity to dorsal root ganglion (DRG) — a specific cluster of sensory neurons — seen in non-human primates during gene therapy studies for neurological disorders, researchers report. The approach successfully protected…

Spinraza (nusinersen) effectively preserves respiratory muscle strength in addition to motor function in children with spinal muscular atrophy (SMA) type 2, according to a real-life, small study in France. Larger studies are needed to confirm these findings, and to determine the usefulness of age-adapted respiratory muscle assessment as an efficacy measure…

Declines in lung function are steeper and quicker in children with spinal muscular atrophy (SMA) type 2 than non-ambulatory children with SMA type 3, matching changes seen in motor abilities in these two patient groups over time, an eight-year study of untreated children in a global SMA registry…

An infant with type 0 spinal muscular atrophy (SMA), a severe disease form evident before birth, began treatment with Spinraza (nusinersen) at 2 weeks old and showed mild improvement, but died of cardiac arrest months later. The case is one of the few documented instances of Spinraza treatment…

A newly identified small molecule able to cross into the brain — named TEC-1 — significantly eased disease severity and prolonged survival in a mouse model of spinal muscular atrophy (SMA), a study from Japan reported. TEC-1 was reported to work in ways similar to Genentech’s oral SMA…

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases.  “The RareLaunch program is…

A newer imaging technique called diffusion tensor imaging (DTI) — a type of muscle MRI — is able to identify small changes in muscle architecture, and may be useful in monitoring the effects of spinal muscular atrophy (SMA) treatments like Spinraza (nusinersen) over time, a small study reported. DTI used…

The Australian Medical Services Advisory Committee (MSAC) has recommended that the costs of screening for mutations known to cause spinal muscular atrophy (SMA), cystic fibrosis (CF) and fragile X syndrome be open to reimbursement for couples planning or in the early stages of pregnancy. Its favorable opinion…