Details

Autor(en) / Beteiligte

• Waldrop, Megan A
• Chagat, Shannon
• Storey, Michael
• Meyer, Alayne
• Iammarino, Megan
• Reash, Natalie
• Alfano, Lindsay
• Lowes, Linda
• Noritz, Garey
• Prochoroff, Andre
• Rossman, Ian
• Ginsberg, Matthew
• Mosher, Kathryn
• Broomall, Eileen
• Bass, Nancy
• Gushue, Courtney
• Kotha, Kavitha
• Paul, Grace
• Shell, Richard
• Tsao, Chang-Yong
• Mendell, Jerry R.
• Connolly, Anne M.

Titel

Continued safety and long-term effectiveness of onasemnogene abeparvovec in Ohio

Ist Teil von

• Neuromuscular disorders : NMD, 2024-01, Vol.34, p.41-48

Ort / Verlag

England: Elsevier B.V

Erscheinungsjahr

2024

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• •SMA natural history has dramatically changed with newborn screening.•Here we report long term follow up of 46 children with SMA and treated with onasemnogene abeparvovec.•Despite treatment within the first 30 days of life, ∼50 % of babies with 2 copies of SMN2 could do better. 5q spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease caused by absence of the SMN1 gene with three FDA approved genetic therapies which significantly improve outcomes. The AAV9 mediated gene replacement therapy, onasemnogene abeparvovec, has the greatest potential for side effects. Here we report the safety and outcomes from 46 children treated with onasemnogene abeparvovec in the state of Ohio between December 2018 and January 2023. In our cohort, onasemnogene abeparvovec treatment remained safe and no child experienced any significant adverse events, including thrombotic microangiopathy, liver failure or death. All children experienced benefit, although the benefit in those with 2 copies of SMN2 was variable. 79 % of the children treated when symptomatic had a SMN2 modifying therapy added on. With careful screening and post treatment monitoring, onasemnogene abeparvovec is safe and effective for children with SMA in the state of Ohio, but more work needs to be done to ensure optimal outcomes for all children with 2 copies of SMN2.