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

Mol Genet Metab. 2017 Jun;121(2):70-79. doi: 10.1016/j.ymgme.2017.05.004. Epub 2017 May 6.

Abstract

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.

Keywords: Adaptive behavior; Clinical trial; Cognitive; Mucopolysaccharidoses; Neurological; Protocol.

Publication types

  • Consensus Development Conference
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Central Nervous System / physiopathology
  • Child
  • Clinical Trials as Topic
  • Cognition*
  • Endpoint Determination
  • Humans
  • Mucopolysaccharidoses / physiopathology
  • Mucopolysaccharidoses / therapy*
  • Mucopolysaccharidosis I / physiopathology
  • Mucopolysaccharidosis I / therapy
  • Mucopolysaccharidosis II / physiopathology
  • Mucopolysaccharidosis II / therapy
  • Mucopolysaccharidosis III / physiopathology
  • Mucopolysaccharidosis III / therapy
  • Nervous System Diseases / therapy
  • Physical Therapy Modalities