Evrysdi (risdiplam) has been recommended for approval in the European Union (EU) to treat spinal muscular atrophy (SMA) patients, ages 2 months and older, with a clinical diagnosis of type 1, 2, or 3, or with one to four copies of the SMN2 “backup” gene. “Our close partnership…
Genentech’s Evrysdi (risdiplam) improved survival in infants with spinal muscular atrophy (SMA) type 1, and allowed them to achieve developmental milestones not usually seen in the natural course of the disease, according to one-year data from the dose-finding part of the FIREFISH trial. While the trial is still ongoing…
When Josylnn Jones McLaughlin moved to Guangzhou, China, to teach conversational English in 2012, she didn’t expect to bring home two girls, one with spinal muscular atrophy (SMA) and the other with spina bifida, when she returned to Anderson, South Carolina, more than a year later. She certainly…
Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed…
To help with stress or anxiety brought on by the COVID-19 pandemic or other issues, adult patients with spinal muscular atrophy (SMA) in the U.S. are being offered up to three half-hour live video sessions with a licensed therapist. The Adults with SMA Virtual Therapy Program is free…
Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…
Children with spinal muscular atrophy (SMA) type 1 may have neurodegeneration in several areas of the brain, with impaired cognitive function and profound speech difficulties, according to a review study. However, brain involvement in this severe type of SMA is understudied and further research — using objective measures and…
Parents of children with spinal muscular atrophy (SMA) reported different perspectives and concerns about Spinraza (nusinersen) therapy in an interview-based study, done to further understand the decision-making process involved in choosing whether to try the new treatment. The findings showed that, while many parents were focused…
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…
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,…
