Roche’s Evrysdi could be used to treat SMA before birth

USA – Doctors in the United States are exploring a groundbreaking approach to treating spinal muscular atrophy (SMA)—starting therapy before birth.

Roche’s Evrysdi (risdiplam) has already shown life-changing benefits for children diagnosed with SMA after birth, but now, a team at St. Jude Children’s Research Hospital has successfully treated a baby while still in the womb.

At two years old, the child shows no clear signs of SMA, a progressive neurodegenerative disease that weakens muscles and affects movement.

This case, described as a “clinical trial of one,” marks the first known instance of prenatal Evrysdi treatment.

A lifesaving decision before birth

The child’s parents were both SMA type 1 carriers and had tragically lost a previous child to the disease at just 16 months old, before treatments like Evrysdi were available.

Genetic testing through amniocentesis confirmed that their unborn baby had SMA type 1, prompting doctors to try a new approach.

The expectant mother took Evrysdi for the last six weeks of pregnancy, allowing the drug to reach the baby before birth.

This early intervention appears to have prevented the usual symptoms of SMA, raising hopes for future prenatal treatment options.

Encouraging results and future research

Dr. Richard Finkel, director of the St. Jude Center for Experimental Neurotherapeutics, expressed optimism about the outcome.

“Our primary objectives were feasibility, safety, and tolerability, so we’re very pleased to see that the parent and child are doing well,” he said. He added that the results suggest further studies are needed to explore prenatal treatment for SMA.

The team now hopes to conduct a larger clinical trial to better understand how early in pregnancy treatment could safely begin.

While the child had some developmental abnormalities at birth—such as a heart defect, optic nerve issues, and brainstem concerns—these were likely present before the mother started taking Evrysdi.

The heart defect has since resolved, but researchers want to investigate the best timing for treatment to prevent such complications.

Evrysdi: A standard SMA treatment

Evrysdi has been a game-changer for SMA treatment since its FDA approval in 2020 for babies aged two months and older.

In 2022, the label was expanded to allow treatment from birth, and more recently, Roche introduced a tablet form, which could potentially be used in pregnancy.

Unlike Biogen’s Spinraza (nusinersen), which requires injections into the spinal fluid, Evrysdi is an oral liquid solution, making it easier to administer. Its convenience has contributed to strong global sales, reaching nearly US $1.8 billion last year.

Another available treatment is Novartis’ Zolgensma (onasemnogene abeparvovec), a one-time gene therapy approved in 2019 for children under two years old. While effective, Zolgensma comes with a high cost and strict eligibility criteria.