Cognitive and adaptive measurement endpoints for clinical trials in mucopolysaccharidoses types I, II, and III: A review of the literature

Molecular Genetics and Metabolism
Darren JanzenElsa Shapiro

Abstract

Sensitive, reliable measurement instruments are critical for the evaluation of disease progression and new treatments that affect the brain in the mucopolysaccharidoses (MPS). MPS I, II, and III have early onset clinical phenotypes that affect the brain during development and result in devastating cognitive decline and ultimately death without treatment. Comparisons of outcomes are hindered by diverse protocols and approaches to assessment including applicability to international trials necessary in rare diseases. We review both cognitive and adaptive measures with the goal of providing evidence to a Delphi panel to come to a consensus about recommendations for clinical trials for various age groups. The results of the consensus panel are reported in an accompanying article. The following data were gathered (from internet resources and from test manuals) for each measure and summarized in the discussion: reliability, validity, date and adequacy of normative data, applicability of the measure's metrics, cross cultural validity including translations and adaptations, feasibility in the MPS population, familiarity to sites, sensitivity to change, and interpretability. If, resulting from this consensus, standard protocols are used ...Continue Reading

Citations

May 13, 2018·Orphanet Journal of Rare Diseases·Elsa G ShapiroJulie B Eisengart
Nov 18, 2018·Italian Journal of Pediatrics·Rita BaroneSerena Gasperini
Sep 16, 2020·International Journal of Environmental Research and Public Health·Miguel Sampayo-CorderoJordi Pérez-López
Jul 11, 2020·SAGE Open Medical Case Reports·Tran Kiem HaoNguyen Thi Kim Hoa
Mar 21, 2021·Molecular Genetics and Metabolism·Elsa G Shapiro, Julie B Eisengart
Jul 2, 2020·Molecular Therapy : the Journal of the American Society of Gene Therapy·Yi LinDao Pan
Dec 17, 2021·American Journal of Medical Genetics. Part a·An N Dang DoForbes D Porter

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