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Targeting a specific region of an intermediate molecule generated from the SMN2 gene increased the levels of functional SMN — the protein lacking in spinal muscular atrophy (SMA) — in cells derived from SMA patients, a study shows. In addition, combining this approach with a splicing modifier similar…
People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to…
People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to…
A 6-year-old boy was found to have a rare form spinal muscular atrophy (SMA) associated with progressive myoclonic epilepsy, a disease type known as “SMA plus” and not related to mutations in the causative gene for SMA, a case study reported.
Improvement in motor function, breathing, and ease of administration are among the factors that people with spinal muscular atrophy (SMA) and their caregivers value most when deciding on available treatments, a new study reports. The study, “Treatment preference among patients with spinal muscular atrophy (SMA): a…
Treatment with Spinraza (nusinersen) was found to reduce the use of ventilation support and to improve motor function in symptomatic infants and children with infantile‐ or later‐onset spinal muscular atrophy (SMA), according to 2.5-year data from the Phase 2 EMBRACE trial. These infants and children had been…
While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of…
Patient advocacy groups, a university, and pharmaceutical companies are among the 12 new partners of the European Alliance for Newborn Screening in Spinal Muscular Atrophy, also known as the SMA NBS Alliance. SMA Europe founded the alliance last year in an effort to include SMA in all…
Beginning next month, Cure SMA will offer a three-part Career Panel Webinar Series tailored to the spinal muscular atrophy (SMA) community in the United States. The series, sponsored by Biogen, opens Feb. 16 at 7 p.m. EST. The hourlong event will include a question-and-answer session, and those interested…
Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…
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