TY - JOUR
T1 - Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure
AU - van der Lee, Johanna H.
AU - Morton, Jonathan
AU - Adams, Heather R.
AU - Clarke, Lorne
AU - Ebbink, Berendine Johanne
AU - Escolar, Maria L.
AU - Giugliani, Roberto
AU - Harmatz, Paul
AU - Hogan, Melissa
AU - Jones, Simon
AU - Kearney, Shauna
AU - Muenzer, Joseph
AU - Rust, Stewart
AU - Semrud-Clikeman, Margaret
AU - Wijburg, Frits A.
AU - Yu, Zi-Fan
AU - Janzen, Darren
AU - Shapiro, Elsa
PY - 2017
Y1 - 2017
N2 - 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 inpatients 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. (C) 2017 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/)
AB - 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 inpatients 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. (C) 2017 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/)
U2 - https://doi.org/10.1016/j.ymgme.2017.05.004
DO - https://doi.org/10.1016/j.ymgme.2017.05.004
M3 - Review article
C2 - 28501294
SN - 1096-7192
VL - 121
SP - 70
EP - 79
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
IS - 2
ER -