News

Non-professional caregivers who care for children with spinal muscular atrophy (SMA) carry a high daily burden that negatively affects certain aspects of their lives, according to a questionnaire study conducted in Europe.  Additionally, more severe disease was correlated with more…

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…

Some children with spinal muscular atrophy (SMA) may develop thrombotic microangiopathy (TMA) — a rare condition characterized by blood abnormalities — following treatment with Zolgensma, a study reports. A serious complication, TMA was resolved with…

Health Canada has approved Novartis‘ gene therapy Zolgensma (onasemnogene abeparvovec) to treat pediatric spinal muscular atrophy (SMA) patients who have three or fewer copies of the SMN2 gene, or with infantile-onset disease. “Today’s announcement about the Canadian approval of Zolgensma is a significant milestone in our journey to reimagine…

Genetic analysis of 28 families with a member affected by spinal muscular atrophy (SMA) identified novel mutations in the SMN1 gene and different genes widely prevalent in SMA patients not found in unaffected family members, a study reveals. …

Administering Spinraza (nusinersen) via a particular method of injection, called the paramedian approach, can shorten procedure times and reduce the occurrence of adverse events for people with spinal muscular atrophy (SMA), a small study suggests. This method may prove to be a much easier route of administration…

Even though physical therapy focuses on the physical state of a patient, it can also act as an emotional relief for some patients. Our patient with SMA, Michael, is not able to get out of his house very much during the week, as he works from home and requires a…

Direct medical costs associated with spinal muscular atrophy (SMA) are more than 50 times higher than those of matched control patients without SMA, according to a healthcare claims analysis. The primary driver of cost for infantile SMA cases was inpatient…

Researchers have found changes in the electrical activity between the brain and muscles in adults who had childhood polio — an infection that affects the same motor neurons as those impacted in people with spinal muscular atrophy (SMA),…

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…