Columns

Scientists have revealed specific alterations to the neuromuscular junction (NMJ) — the place where nerves connect to the muscle they control — in fast-twitch muscle fibers in two mouse models of spinal and bulbar muscular atrophy (SBMA). The team also provided evidence for metabolic impairment and muscle fiber…

When you’re living with a complicated disease such as SMA, it’s half the battle to have a knowledgeable and trustworthy medical team helping to manage everything. I’ve always been fortunate in that respect. I know how difficult it is to build a solid medical team, but I’ve somehow…

Spinraza (nusinersen) treatment was generally well tolerated and led to improved or stabilized motor function for nearly 300 children with spinal muscular atrophy (SMA) in Poland, a new study reports. The study, “Safety, tolerability, and efficacy of a widely available nusinersen program for Polish children with Spinal…

As others set off fireworks on Independence Day, a Facebook post set off personal waterworks. It also determined the focus of this column. Credit angel intervention. *** Molly Grantham is an anchor for WBTV, a local TV…

Undergoing physical therapy nearly every day while on Spinraza (nusinersen) leads to significantly greater motor improvements than occasional sessions for children and adolescents with spinal muscular atrophy (SMA), a small study suggests. These benefits — detected in patients with types 1, 2, and 3 — were…

Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world. But a new analysis shows there are as many as 10,867 rare diseases globally. And…

Three years into my collaboration with biotech company Genentech, and I still feel like a fish out of water. This is what professionals call impostor syndrome (IS), defined by Lexico as “the persistent inability to believe that one’s success is deserved or has been legitimately achieved as…

Two children genetically diagnosed with spinal muscular atrophy (SMA) before birth and starting treatment with Spinraza (nusinersen) within the first days of life have shown normal motor development, including a girl who is now almost 6 years old, a study reports. The girl was likely to develop SMA…

A Phase 3 clinical trial evaluating Biohaven Pharmaceuticals’ taldefgrobep alfa as an add-on therapy in children and young adults with spinal muscular atrophy (SMA) has enrolled its first patient. The trial, dubbed RESILIENT (NCT05337553), expects to recruit up to 180 SMA patients already on disease-modifying therapies (DMTs),…

A single lyric keeps ringing in my head from Fletcher’s latest single, “Her Body Is Bible.” It goes, “Hold on tight, when the world gets hard, this s**t’s like paradise.” The song appears pretty straightforward at first blush. The lyrics and the imagery are simple, attempting to reclaim…