Risdiplam for prenatal therapy of spinal muscular atrophy

Interviewer: We're joined today by Dr. Richard Finkel from St. Jude Children's Hospital, who recently published a report in the New England Journal of Medicine, detailing the first prenatal use of risdiplam, a medication used to treat spinal muscular atrophy, or SMA. Prof. Finkel, thank you so much for joining us today. Dr. Finkel: It's my pleasure. Thank you for this opportunity to expand upon our case report. Interviewer: Can you start by providing our audience with a summary of your report? Dr. Finkel: Certainly. This was an opportunity that fell in my lap more or less, because parents reached out to me for a consultation, and I did what's called a telemedicine consult more remotely because the family lives a bit away from my hospital. They already were well informed about SMA. Unfortunately, they had a prior baby with a more severe form of SMA called Type I, who was born before any of the three currently available treatments were available for their child, and that child passed in infancy. They were well aware of the serious nature of SMA, and when the parents found that they were pregnant with another child, they elected to undergo an amniocentesis to see whether that fetus was affected or not. In fact, it was, unfortunately. But that led them to consider different treatment options. They were already aware that there are these three approved drugs by the regulatory agencies both in the US and in Europe and many other countries now, and those are available for treatment shortly after birth. Those are typically given to babies in the first few weeks of life. Those babies are identified by