With Rare Disease Day coming up on Feb. 29, one question in particular has been circling the SMA community: “What makes you rare?” Anyone affected by a rare disease is entitled to their opinion. Likewise, everyone is uniquely qualified to comment on the concept of rarity. However, I struggle…

The first Rare Disease Day was celebrated in Europe in 2008. The United States participated the following year, and by 2019 more than 100 countries had joined in to highlight rare diseases. The special acknowledgment falls annually on the last day of February. This year, that’s the…

Gene therapies — after a tragedy kicked them back to the lab some two decades ago — are beginning to come into their own, making progress in gene-targeted and combination treatments for neuromuscular diseases that once were unimaginable. Nowhere is this more evident than in spinal muscular atrophy (SMA),…

Muscle-specific microRNAs, small DNA-related molecules detectable in blood tests, may be biomarkers of disease progression and response to therapy in children with spinal muscular atrophy (SMA), a small study suggests. The levels of several muscle microRNAs (miRNAs) in children with SMA type 2 and type 3…

For the new year, Cure SMA is stepping up its efforts to get states not testing for spinal muscular atrophy (SMA) at birth to implement the practice — noting that such newborn screenings could dramatically improve patients’ quality of life. Some 17 states began newborn screenings for SMA…

SMA News Today brought you daily coverage of key findings, treatment developments  — including in-depth coverage of Zolgensma’s approval in the U.S. — and of clinical trials related to spinal muscular atrophy (SMA) throughout 2019. We look forward to reporting more of this relevant news to patients, family members, and…

The parents of two babies treated in July with Zolgensma, the first gene therapy approved for spinal muscular atrophy or any neuromuscular disease, are confident they made the right choice for their girls. Both families also said they would make the same decision today, with minor adjustments.

Combining Spinraza with low-dose panobinostat — the active substance in an approved treatment for a blood cancer — may amplify Spinraza’s effectiveness, increasing the production of  the survival motor neuron (SMN) protein whose lack is the underlying cause of spinal muscular atrophy (SMA), an early study in cell…

A few columns ago, I wrote that I no longer was pursuing Spinraza (nusinersen). I still have no qualms about that decision, because we have a number of potential treatments that are slowly making their way to FDA approval, including risdiplam.

Recently, I attended the 2019 Cure SMA Chapter and Leadership Conference in Boston. There, I connected with friends I had met through previous conferences and listened to presentations from Cure SMA staff members, as well as updates from the pharmaceutical companies…