Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints

Johanna H. van der Lee, Jonathan Morton, Heather R. Adams, Lorne Clarke, Julie B. Eisengart, Maria L. Escolar, Roberto Giugliani, Paul Harmatz, Melissa Hogan, Shauna Kearney, Joseph Muenzer, Nicole Muschol, Stewart Rust, Benjamin R. Saville, Margaret Semrud-Clikeman, Raymond Wang, Elsa Shapiro

Research output: Contribution to journalArticlepeer-review

30 Scopus citations

Abstract

Neurological dysfunction represents a significant clinical component of many of the mucopolysaccharidoses (also known as MPS disorders). The accurate and consistent assessment of neuropsychological function is essential to gain a greater understanding of the precise natural history of these conditions and to design effective clinical trials to evaluate the impact of therapies on the brain. In 2017, an International MPS Consensus Panel published recommendations for best practice in the design and conduct of clinical studies investigating the effects of therapies on cognitive function and adaptive behavior in patients with neuronopathic mucopolysaccharidoses. Based on an International MPS Consensus Conference held in February 2020, this article provides updated consensus recommendations and expands the objectives to include approaches for assessing behavioral and social-emotional state, caregiver burden and quality of life in patients with all mucopolysaccharidoses.

Original languageEnglish (US)
Pages (from-to)181-196
Number of pages16
JournalMolecular Genetics and Metabolism
Volume131
Issue number1-2
DOIs
StatePublished - Sep 13 2020

Bibliographical note

Publisher Copyright:
© 2020 The Authors

Keywords

  • Behavior
  • Clinical trial
  • Cognitive
  • Mucopolysaccharidoses
  • Protocol
  • Social-emotional

PubMed: MeSH publication types

  • Journal Article
  • Research Support, Non-U.S. Gov't

Fingerprint

Dive into the research topics of 'Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints'. Together they form a unique fingerprint.

Cite this