News

The gene therapy Zolgensma was added to the list of medications available to eligible spinal muscular atrophy (SMA) type 1 patients through England’s and Scotland’s national health services (NHS). With a reported list price of £1.79 million ($2.48 million) per dose — the most expensive yet — Novartis’ Zolgensma uses…

Many diseases have their own awareness color — breast cancer is pink, muscular dystrophy is green, and AIDS is red, for example — but what’s the significance of pink, green, blue, and purple lights side-by-side? These are the colors most often used to represent Rare Disease Day. This…

Adults with spinal muscular atrophy (SMA) usually do not experience weakness or impairment of any sort in the muscles controlling their eye movements, a recent study reported. When such impairments are present, they should prompt physicians to re-evaluate their initial diagnosis and consider the possibility that a patient may…

Being an adolescent or young adult with spinal muscular atrophy (SMA) presents unique challenges, according to a study based on viewpoints expressed by patients ages 12 to 25. “‘I have SMA, SMA doesn’t have me’: a qualitative snapshot into the challenges, successes, and quality of life…

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, S.C., more than a year later. She certainly had…

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…