Is gene therapy in spinal muscular atrophy safe? A casereport of thrombotic microangiopathy following onasemnogene abeparvovec
More details
Hide details
Medical University, Lublin, Poland
Corresponding author
Aleksandra Ziółkiewicz   

Medical University of Lublin, Poland
J Pre Clin Clin Res. 2022;16(4):143-144
Spinal muscular atrophy is a neuromuscular disorder caused by a mutation in the survival of SMN1 gene. Diagnosis of the disease is based mainly on the presence of hypotonia and symmetrical [1]. A five-month-old male with SMA type 1 was admitted to the Children’s Neurology Clinic for gene therapy with onasemnogene abeparvovec. He was diagnosed with spinal muscular atrophy in newborn screening.Neurological examination of the patient revealed abolition of deep tendon reflexes. Administration of the medication proceeded without complications. Two weeks after gene therapy, abnormal test results were observed. The patient experienced several adverse effects of the therapy, which indicated thrombotic microangiopathy (TMA). Gene therapy with onasemnogene abeparvovec provides many hopes for patients with SMA. On the other hand, its safety remains uncertain and patients require comprehensive long-term monitoring for possible side-effects.
Ziółkiewicz A, Bielak M, Welian I, Chrościńska- Krawczyk M. Is gene therapy in spinal muscular atrophy safe? A case report of thrombotic microangiopathy following onasemnogene abeparvovec. J Pre-Clin Clin Res. 2022; 16(4): 143–144. doi: 10.26444/jpccr/154984
Mercuri E, Finkel RS, Muntoni F, Wirth B, et al. SMA Care Group. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018 Feb;28(2):103–115. doi: 10.1016/j.nmd.2017.11.005. Epub 2017 Nov 23. PMID: 29290580.
Tejal A, Toshifumi Y. Restoring SMN Expression: An Overview of the Therapeutic Developments for the Treatment of Spinal Muscular Atrophy. Cells. 2022 Jan 26;11(3):417. doi: 10.3390/cells11030417.
Elizabeth A. Kichula, MD, PhD, Crystal M. Proud, MD, Michelle A. Farrar, PhD, MBBS, Jennifer M. Kwon, MD, Kayoko Saito, MD, PhD, Isabelle Desguerre, MD, PhD, and Hugh J. McMillan, MD. Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy. Muscle Nerve. 2021 Oct;64(4):413–427. doi: 10.1002/mus.27363. Epub 2021 Jul 20.
Deepa H Chand, Craig Zaidman, Kapil Arya, Rachel Millner, Michelle A Farrar, Fiona E Mackie, Natalie L Goedeker, Vikas R Dharnidharka, Raja Dandamudi, Sandra P Reyna. Thrombotic Microangiopathy Following Onasemnogene Abeparvovec for Spinal Muscular Atrophy: A Case Series. J Pediatr. 2021 Apr;231:265–268. doi: 10.1016/j.jpeds.2020.11.054.
Julia Guillou, Alice De Pellegars, Florence Porcheret, Véronique Fremeaux-Bacchi, Emma Allain-Launay, Camille Debord, Manon.
Journals System - logo
Scroll to top