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 to…
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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 5,…
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. SMA…
Assistive equipment is vital to enhancing function, fun, and social participation in children with severe disabilities such as spinal muscular atrophy (SMA) and should be considered standard-care therapies, along with medications such as Spinraza (nusinersen). A recent scientific study reviewed the available literature on assistive devices and equipment,…
Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…
Young adults with spinal muscular atrophy (SMA) exhibited thigh muscle decline despite stable strength and motor function over one year, a pilot study using quantitative MRI imaging demonstrated. The scientists said this non-invasive muscle imaging technique shows its potential as a…
Fourteen months of treatment with Spinraza (nusinersen) resulted in improved motor function in a previously untreated 15-year-old boy with late-onset spinal muscular atrophy (SMA), a case report in South Korea shows. The findings add to previous clinical trial and real-world evidence highlighting the benefits of Spinraza in late-onset…
It’s now been more than four years since Spinraza (nusinersen) was first approved by the U.S. Food and Drug Administration, and presymptomatic children with spinal muscular atrophy (SMA) who received the therapy as part of the Phase 2 NURTURE trial are growing up fast and, by all accounts, showing…
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 ineligible…
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 the…
