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Crigler-Najjar syndrome: looking to the future does not make us forget the present.

Fabiola Di DatoGiuseppe D'UonnoRaffaele Iorio
Published in: Orphanet journal of rare diseases (2024)
Recently, the safety and efficacy of gene therapy were evaluated in patients with Crigler-Najjar syndrome (CNS). Although it is a promising curative option for CNS, many doubts still persist about its long-term efficacy and safety. Furthermore, there is a risk of overlooking several unresolved problems still present in current clinical practice. This letter is a call for action on crucial open issues that remain nowadays an unmet need in the management of CNS patients.
Keyphrases
  • gene therapy
  • blood brain barrier
  • clinical practice
  • prognostic factors
  • ejection fraction
  • newly diagnosed
  • mental health
  • case report
  • minimally invasive
  • patient reported outcomes