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PACS1-Neurodevelopmental disorder: clinical features and trial readiness.

Abigail Van NulandTaruna ReddyFarhad QuassemJean-Dominique VassalliAnne T Berg
Published in: Orphanet journal of rare diseases (2021)
PACS1-NDD is a moderately-severe intellectual disability syndrome in which seizures occur but are not a defining or primary feature. Successful precision medicine clinical trials for this ultra-rare disorder must target important core features of this disorder and utilize assessment tools commensurate with the level of function in this clinical population.
Keyphrases
  • intellectual disability
  • clinical trial
  • autism spectrum disorder
  • machine learning
  • phase iii
  • study protocol
  • deep learning
  • open label