Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure

Johanna H. van der Lee, Jonathan Morton, Heather R. Adams, Lorne Clarke, Berendine Johanne Ebbink, Maria L. Escolar, Roberto Giugliani, Paul Harmatz, Melissa Hogan, Simon Jones, Shauna Kearney, Joseph Muenzer, Stewart Rust, Margaret Semrud-Clikeman, Frits A. Wijburg, Zi fan Yu, Darren Janzen, Elsa Shapiro

Research output: Contribution to journalReview articlepeer-review

25 Scopus citations


The design and conduct of clinical studies to evaluate the effects of novel therapies on central nervous system manifestations in children with neuronopathic mucopolysaccharidoses is challenging. Owing to the rarity of these disorders, multinational studies are often needed to recruit enough patients to provide meaningful data and statistical power. This can make the consistent collection of reliable data across study sites difficult. To address these challenges, an International MPS Consensus Conference for Cognitive Endpoints was convened to discuss approaches for evaluating cognitive and adaptive function in patients with mucopolysaccharidoses. The goal was to develop a consensus on best practice for the design and conduct of clinical studies investigating novel therapies for these conditions, with particular focus on the most appropriate outcome measures for cognitive function and adaptive behavior. The outcomes from the consensus panel discussion are reported here.

Original languageEnglish (US)
Pages (from-to)70-79
Number of pages10
JournalMolecular Genetics and Metabolism
Issue number2
StatePublished - Jun 2017

Bibliographical note

Funding Information:
Heather R Adams has served as a consultant to BioMarin; she receives research support from: Abeona Therapeutics, Batten Disease Support & Research Association, Batten Research Alliance, the Disability Research and Dissemination Center, and the National Institutes of Health (NIH).

Funding Information:
Financial support for this literature review and for the consensus conference was provided from BioMarin Pharmaceutical, Sanofi Genzyme, Shire, Alexion, Armagen, Chiesi, Eloxx, Esteve, Orchard Therapeutics, PTC Therapeutics, ReGenXBio, Sobi, Ultragenyx, uniQure, Abeona Therapeutics, Amicus Therapeutics, Lysogene, Phoenix Nest. None of the meeting sponsors had any role in the design, conduct or outcomes of the Delphi consensus process.

Funding Information:
Paul R Harmatz received consulting fees from Armagen, BioMarin, Shire, Genzyme Sanofi, Alexion, Chiesi, Inventiva, PTC Therapeutics, and ReGenXBio; research funding from BioMarin, Shire, Ultragenyx, Genzyme Sanofi, Alexion, and Armagen; and travel and meeting reimbursement from BioMarin, Shire, Genzyme Sanofi, and Alexion.

Funding Information:
Frits A Wijburg has received honoraria for presentations and board meetings, travel expenses to meetings and honoraria for consultancy work from Genzyme Sanofi, Shire, Lysogene, and Sobi, and has received research grants from Genzyme Sanofi and BioMarin.

Publisher Copyright:
© 2017 The Authors


  • Adaptive behavior
  • Clinical trial
  • Cognitive
  • Mucopolysaccharidoses
  • Neurological
  • Protocol


Dive into the research topics of 'Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure'. Together they form a unique fingerprint.

Cite this