To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders (NORD) has launched an initiative across the U.S. Its goal is to establish a Rare Disease Advisory Council (RDAC)…
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Repeated administrations of Spinraza (nusinersen) were associated with the presence of macrophages — immune cells specialized in recognizing and eliminating harmful organisms and dead cells — with unusual features in the spinal fluid of two infants with spinal muscular atrophy (SMA), a case study reports. While these abnormalities…
Evrysdi (risdiplam) at its approved and therapeutic dose does not lead to eye damage in children or adults with spinal muscular atrophy (SMA), data from extensive ophthalmologic monitoring of patients in its clinical trials — prompted by earlier safety findings in monkeys — show. These data support the therapy’s favorable safety…
The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…
Cure SMA is offering free personal protective equipment (PPE) packages to support spinal muscular atrophy (SMA) patients in the U.S. during the ongoing COVID-19 pandemic. Through the temporary program, called COVID-19 PPE Package, SMA households can receive shipped supplies of antibacterial wipes, antibacterial hand sanitizer gel, disposable…
Australia is expanding access to Spinraza (nusinersen) to children and infants with severe spinal muscular atrophy (SMA) who have not yet developed symptoms, a period when the medicine is likely to benefit patients the most. Effective Dec. 1, Biogen’s Spinraza will be added to the Pharmaceutical Benefits Scheme (PBS) for the treatment…
Olesoxime, a small molecule once considered a potential treatment, failed to slow motor and respiratory decline in people with spinal muscular atrophy (SMA) types 2 and 3 who were unable to walk, according to final results from an extension Phase 2 clinical trial. Data covering nearly 2.5 years of treatment…
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…
