Summary of Research: Fertility Outcomes in Risdiplam-Treated Male Patients with Spinal Muscular Atrophy: A...

This Summary of Research summarizes a previously published original article, "Fertility Outcomes in Risdiplam-Treated Male Patients with Spinal Muscular Atrophy: A Multicenter Case Series." Risdiplam (EVRYSDI^®) is a medication approved for the treatment of spinal muscular atrophy (SMA), a genetic disease that causes muscle weakness. SMA has been associated with an increased likelihood of decreased fertility compared with the general population. Studies carried out in animals have shown that risdiplam and medications similar to risdiplam disrupt the process by which sperm cells are made. This prompted researchers to question if risdiplam may affect male fertility in humans. This study presented fertility outcomes from three male adults with SMA who conceived with their partners while receiving risdiplam. These cases indicated that there was sufficient sperm production while on risdiplam to result in pregnancy. Two of the pregnancies resulted in healthy, full-term babies who were developing as expected, and one pregnancy was ended voluntarily. Further research is needed to fully understand the effect of risdiplam on male fertility in the broader SMA population. Findings from this research are relevant to male individuals with SMA, their families, caregivers, patient advocates, and healthcare professionals involved in the diagnosis and treatment of SMA.