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

doi:10.1016/j.ymgme.2017.05.004

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

Institute on Development and Disability

Research output: Contribution to journal › Review article › peer-review

33 Scopus citations

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.

Original language	English (US)
Pages (from-to)	70-79
Number of pages	10
Journal	Molecular Genetics and Metabolism
Volume	121
Issue number	2
DOIs	https://doi.org/10.1016/j.ymgme.2017.05.004
State	Published - Jun 2017

Keywords

Adaptive behavior
Clinical trial
Cognitive
Mucopolysaccharidoses
Neurological
Protocol

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Biochemistry
Molecular Biology
Genetics
Endocrinology

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van der Lee, J. H., Morton, J., Adams, H. R., Clarke, L., Ebbink, B. J., Escolar, M. L., Giugliani, R., Harmatz, P., Hogan, M., Jones, S., Kearney, S., Muenzer, J., Rust, S., Semrud-Clikeman, M., Wijburg, F. A., Yu, Z. F., Janzen, D., & Shapiro, E. (2017). Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure. Molecular Genetics and Metabolism, 121(2), 70-79. https://doi.org/10.1016/j.ymgme.2017.05.004

van der Lee, JH, Morton, J, Adams, HR, Clarke, L, Ebbink, BJ, Escolar, ML, Giugliani, R, Harmatz, P, Hogan, M, Jones, S, Kearney, S, Muenzer, J, Rust, S, Semrud-Clikeman, M, Wijburg, FA, Yu, ZF, Janzen, D & Shapiro, E 2017, 'Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure', Molecular Genetics and Metabolism, vol. 121, no. 2, pp. 70-79. https://doi.org/10.1016/j.ymgme.2017.05.004

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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.",

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doi = "10.1016/j.ymgme.2017.05.004",

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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

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AU - Janzen, Darren

AU - Shapiro, Elsa

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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 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.

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

Abstract

Keywords

ASJC Scopus subject areas

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