MUSCULAR ATROPHY, SPINAL

This study looks at whether adding risdiplam early can help infants under 2 with spinal muscular atrophy (SMA) who already had gene therapy. About 28 children with two copies of the SMN2 gene will receive risdiplam and be monitored for 72 weeks. The goal is to see if this combina…

This study tests a drug called salanersen in babies who have a genetic diagnosis of spinal muscular atrophy (SMA) but no symptoms yet. The drug aims to help the body make more of a protein needed for muscle and nerve function. Researchers want to see if early treatment can help b…

This study looks at how the body handles nusinersen (Spinraza) when given through a new implanted device called ThecaFlex DRx™, compared to a standard lumbar puncture. About 58 people with spinal muscular atrophy who are already in the PIERRE study will take part. Researchers wil…

This study looks at how the drug risdiplam works in newborn babies with spinal muscular atrophy (SMA), a serious muscle-weakening disease. Ten infants under 20 days old will receive the medicine to check its safety and how the body processes it. The goal is to find better ways to…

This study is for children under 2 with spinal muscular atrophy (SMA) who received gene therapy but then stopped getting better or started to decline. Researchers want to see if adding a medicine called risdiplam can help them regain motor skills like sitting or crawling. The stu…

This study collects health information from pregnant women with spinal muscular atrophy (SMA) who have taken the drug Spinraza (nusinersen). Researchers want to learn about pregnancy outcomes and baby health, since little is known about the drug's effects during pregnancy. About …