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

Molecular Genetics and Metabolism
Johanna H van der LeeElsa G Shapiro

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.

Citations

May 13, 2018·Orphanet Journal of Rare Diseases·Elsa G ShapiroJulie B Eisengart
Dec 7, 2017·American Journal of Medical Genetics. Part a·Can FiciciogluRossella Parini
Sep 19, 2020·Journal of Inherited Metabolic Disease·Sylvia Stockler-IpsirogluClara van Karnebeek
Sep 16, 2020·International Journal of Environmental Research and Public Health·Miguel Sampayo-CorderoJordi Pérez-López
Jan 16, 2020·International Journal of Molecular Sciences·Yuji Sato, Torayuki Okuyama
Nov 18, 2018·Italian Journal of Pediatrics·Rita BaroneSerena Gasperini
Feb 14, 2020·International Journal of Molecular Sciences·Karolina PierzynowskaGrzegorz Węgrzyn
Mar 21, 2021·Molecular Genetics and Metabolism·Elsa G Shapiro, Julie B Eisengart
May 29, 2021·Journal of Inherited Metabolic Disease·Arunabha GhoshSimon A Jones
Jul 24, 2021·Pediatric Neurology·Elsa Shapiro, Richard Ziegler
Jul 13, 2021·Molecular Genetics and Metabolism·Julie B EisengartCara O'Neill

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