Case report: A case of spinal muscular atrophy in a preterm infant: risks and benefits of treatment

Frontiers in Neurology

Neurology

Hugh McMillan¹  Craig Campbell²  Mark Tarnopolsky³  Pranesh Chakraborty⁴  Aamir Jeewa⁵  Binita Kamath⁶  Caroline Malcolmson⁷  Eyal Grunebaum⁸  Christoph Licht⁹  Elisa Nigro^1,10  Hernan Gonorazky^1,10 

[1] Department of Pediatrics, Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada;Department of Pediatrics, Children's Hospital, London Health Sciences Centre, Western University, London, ON, Canada;Department of Pediatrics, McMaster Children's Hospital, Hamilton, ON, Canada;Department of Pediatrics, Newborn Screening Ontario, Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada;Division of Cardiology, The Hospital for Sick Children (SickKids), Toronto, ON, Canada;Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children (SickKids), Toronto, ON, Canada;Division of Hematology/Oncology, The Hospital for Sick Children (SickKids), Toronto, ON, Canada;Division of Immunology, The Hospital for Sick Children (SickKids), Toronto, ON, Canada;Division of Nephrology, The Hospital for Sick Children (SickKids), Toronto, ON, Canada;Division of Neurology, The Hospital for Sick Children (SickKids), Toronto, ON, Canada;

关键词: spinal muscular atrophy;    preterm;    newborn screening;    gene therapy;    Zolgensma;   

DOI  :  10.3389/fneur.2023.1230889

 received in 2023-05-29, accepted in 2023-08-15,  发布年份 2023

来源: Frontiers

【 摘 要 】

Spinal muscular atrophy (SMA) is a neuromuscular genetic disorder caused by the loss of lower motor neurons leading to progressive muscle weakness and atrophy. With the rise of novel therapies and early diagnosis on newborn screening (NBS), the natural history of SMA has been evolving. Earlier therapeutic interventions can modify disease outcomes and improve survival. The role of treatment in infants born preterm is an important question given the importance of early intervention. In this study, we discuss the case of an infant born at 32 weeks who was diagnosed with SMA on NBS and was treated with Spinraza® (Nusinersen) and Zolgensma® (Onasemnogene abeparvovec-xioi) within the first 2 months of life. With the scarce evidence that currently exists, clinicians should be aware of the efficacy and safety impact of early therapy particularly in the preterm infant.

【 授权许可】

Unknown   
Copyright © 2023 Nigro, Grunebaum, Kamath, Licht, Malcolmson, Jeewa, Campbell, McMillan, Chakraborty, Tarnopolsky and Gonorazky.