Fatal thrombotic microangiopathy case following adeno-associated viral SMN gene therapy

Blood Adv. 2022 Jul 26;6(14):4266-4270. doi: 10.1182/bloodadvances.2021006419.

Abstract

Adeno-associated virus (AAV) gene therapies are highly promising, such as the onasemnogene abeparvovec (Zolgensma) in spinal muscle atrophy (SMA). We report the first case of fatal systemic thrombotic microangiopathy (TMA) following onasemnogene abeparvovec in a 6-month-old child with SMA type 1, carrying a potential genetic predisposition in the complement factor I gene. Other cases of TMA have recently been reported after onasemnogene abeparvovec and after AAV9 minidystrophin therapy in Duchenne muscular dystrophy. The risk-benefit ratio of this therapy must therefore be assessed. Early recognition of TMA and targeted immunotherapy are fundamental to ensure the safety of patients treated with AAV gene therapies.

Publication types

  • Case Reports

MeSH terms

  • Dependovirus / genetics
  • Fatal Outcome
  • Genetic Therapy / adverse effects
  • Humans
  • Immunotherapy
  • Infant
  • Muscular Atrophy, Spinal* / genetics
  • Muscular Atrophy, Spinal* / therapy
  • Thrombotic Microangiopathies* / diagnosis
  • Thrombotic Microangiopathies* / etiology
  • Thrombotic Microangiopathies* / therapy