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

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 patient...

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Bibliographic Details
Published in:Molecular genetics and metabolism 2017-06, Vol.121 (2), p.70-79
Main Authors: van der Lee, Johanna H., Morton, Jonathan, Adams, Heather R., Clarke, Lorne, Ebbink, Berendine Johanne, Escolar, Maria L., Giugliani, Roberto, Harmatz, Paul, Hogan, Melissa, Jones, Simon, Kearney, Shauna, Muenzer, Joseph, Rust, Stewart, Semrud-Clikeman, Margaret, Wijburg, Frits A., Yu, Zi-fan, Janzen, Darren, Shapiro, Elsa
Format: Article
Language:English
Subjects:
Adaptive behavior
Central Nervous System - physiopathology
Child
Clinical trial
Clinical Trials as Topic
Cognition
Cognitive
Endpoint Determination
Humans
Mucopolysaccharidoses
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
Neurological
Physical Therapy Modalities
Protocol
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Summary: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.
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2017.05.004