MUSCULAR ATROPHY, SPINAL

This study tests whether adding risdiplam early can improve motor skills in infants under 2 with spinal muscular atrophy who already received gene therapy. About 28 children with two SMN2 gene copies will take risdiplam for 72 weeks. Researchers will track changes in gross motor …

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 helps the body make more of a protein needed for muscle and nerve function. Researchers want to see if early treatment can prevent or re…

This study tests a medicine called risdiplam in babies under 2 years old with spinal muscular atrophy (SMA) who stopped getting better or started losing skills after receiving gene therapy. The goal is to see if risdiplam can help them regain motor abilities like sitting and movi…

This study is testing a medicine called risdiplam in newborn babies with spinal muscular atrophy (SMA), a serious muscle-weakening disease. The goal is to see how the drug works in the body and if it is safe for infants under 20 days old. Ten babies will take part, and researcher…

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 Spinraza (nusinersen) affects pregnant women with spinal muscular atrophy (SMA) and their babies. Researchers will collect health information from up to 20 pregnant women who took Spinraza before or during pregnancy, without changing their medical…