There are more than 1,200 people with spinal muscular atrophy (SMA) living in Italy, and the vast majority are on disease-modifying treatment, according to a new study. SMA types 2 and 3 are the most common forms of the disease in the country, but the prevalence…

UNITY Screen, a noninvasive prenatal blood test, can provide an accurate personalized risk assessment for hereditary diseases such as spinal muscular atrophy (SMA) in fetuses, according to a recent study. Offered by BillionToOne in the U.S., the single-gene noninvasive prenatal test (sgNIPT) included in UNITY Screen requires…

The same mutation caused spinal muscular atrophy with congenital bone fractures-2 (SMABF2) in two unrelated infants of Roma descent, a case study reported. The researchers suggest genetic screening of those at risk within the Roma population. The case study, “Spinal muscular atrophy with congenital bone fractures…

[Editor’s Note: This is one in a series of articles about the discovery and development of Evrysdi, the newly approved disease-modifying therapy for spinal muscular atrophy (SMA), as well as the scope of SMA issues and treatments. Here, we spoke with leaders at PTC Therapeutics about the expertise,…

There’s no need to dwell on the insanity that has defined 2020, so I’m skipping right on over to this month. I think it’s August. August is SMA Awareness Month, an opportunity to flood the universe with all things SMA for 31 days. Those in the…

When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience.  Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children with…

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…

Babies with spinal muscular atrophy (SMA) treated with Zolgensma before experiencing symptoms continue to reach motor milestones in a normal timeframe, according to updated Phase 3 results. “With genetic testing in hand and presymptomatic treatment, we can look forward to a future in which age-appropriate motor milestone development…

Some $6.6 million in new Muscular Dystrophy Association (MDA) multiyear grants will support promising studies in an array of neuromuscular disorders, including spinal muscular atrophy (SMA). Through their work, the 25 award recipients hope to better understand disease mechanisms, build upon current treatments,  advance the identification of new…