HDQLIFE development and assessment of healthrela

Authors: N E Carlozzi S G Schilling JS Lai J S Paulsen E A Hahn J S Perlmutter C A Ross N R Downing A L Kratz M K McCormack M A Nance K A Quaid J C Stout R C Gershon R E Ready J A Miner S K Barton S L Perlman S M Rao S Frank I Shoulson H Marin M D Geschwind P Dayalu S M Goodnight D Cella

Publish Date: 2016/08/13

Volume: 25, Issue: 10, Pages: 2441-2455

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Abstract

Huntington disease HD is a chronic debilitating genetic disease that affects physical emotional cognitive and social health Existing patientreported outcomes PROs of healthrelated quality of life HRQOL used in HD are neither comprehensive nor do they adequately account for clinically meaningful changes in function While new PROs examining HRQOL ie NeuroQoL—Quality of Life in Neurological Disorders and PROMIS—PatientReported Outcomes Measurement Information System offer solutions to many of these shortcomings they do not include HDspecific content nor have they been validated in HD HDQLIFE addresses this by validating 12 PROMIS/NeuroQoL domains in individuals with HD and by using established PROMIS methodology to develop new HDspecific contentNew item pools were developed using cognitive debriefing with individuals with HD and expert literacy and translatability reviews Existing item banks and new item pools were field tested in 536 individuals with prodromal early or latestage HDModerate to strong relationships between NeuroQoL/PROMIS measures and generic selfreport measures of HRQOL and moderate relationships between NeuroQoL/PROMIS and clinicianrated measures of similar constructs supported the validity of NeuroQoL/PROMIS in individuals with HD Exploratory and confirmatory factor analysis item response theory and differential item functioning analyses were utilized to develop new item banks for Chorea Speech Difficulties Swallowing Difficulties and Concern with Death and Dying with corresponding sixitem short forms A fouritem short form was developed for Meaning and PurposeWork on this manuscript was supported by the National Institutes of Health NIH National Institute of Neurological Disorders and Stroke R01NS077946 and the National Center for Advancing Translational Sciences UL1TR000433 In addition a portion of this study sample was collected in conjunction with the PredictHD study The PredictHD study was supported by the NIH National Institute of Neurological Disorders and Stroke R01NS040068 the NIH Center for Inherited Disease Research provided supported for sample phenotyping and the CHDI Foundation award to the University of Iowa We thank the University of Iowa the Investigators and Coordinators of this study the study participants the National Research Roster for Huntington Disease Patients and Families the Huntington Study Group and the Huntington’s Disease Society of America We acknowledge the assistance of Jeffrey D Long Hans J Johnson Jeremy H Bockholt Roland Zschiegner and Jane S Paulsen We also acknowledge Roger Albin Kelvin Chou and Henry Paulsen for the assistance with participant recruitment The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIHNoelle Carlozzi Praveen Dayalu Stephen Schilling Amy Austin Matthew Canter Siera Goodnight Jennifer Miner Nicholas Migliore University of Michigan Ann Arbor MI Jane Paulsen Nancy Downing Isabella DeSoriano Courtney Shadrick Amanda Miller University of Iowa Iowa City IA Kimberly Quaid Melissa Wesson Indiana University Indianapolis IN Christopher Ross Gregory Churchill Mary Jane Ong Johns Hopkins University Baltimore MD Susan Perlman Brian Clemente Aaron Fisher Gloria Obialisi Michael Rosco University of California Los Angeles Los Angeles CA Michael McCormack Humberto Marin Allison Dicke Rutgers University Piscataway NJ Joel Perlmutter Stacey Barton Shineeka Smith Washington University St Louis MO Martha Nance Pat Ede Struthers Parkinson’s Center Stephen Rao Anwar Ahmed Michael Lengen Lyla Mourany Christine Reece Cleveland Clinic Foundation Cleveland OH Michael Geschwind Joseph Winer University of California—San Francisco San Francisco CA David Cella Richard Gershon Elizabeth Hahn JinShei Lai Northwestern University Chicago ILNE Carlozzi currently has research grants from the NIH she is also supported by grant funding from the NIH NIDILRR and CHDI she declares no conflicts of interest SG Schilling has a research grant from NSF He also is supported by grant funding from NIH He declares no conflicts of interest JS Lai currently has research grants from the NIH she declares no conflicts of interest JS Paulsen currently has research grants from the NIH she is also supported by grant funding from NIH NINDS and CHDI she declares no conflicts of interest EA Hahn currently has research grants from the NIH she is also supported by grant funding from the NIH and PCORI and by research contracts from Merck and EMMES she declares no conflicts of interest JS Perlmutter currently has funding from the NIH HDSA CHDI and APDA He has received honoraria from the University of Rochester American Academy of Neurology Movement Disorders Society Toronto Western Hospital St Luke’s Hospital in St Louis Emory University Penn State University Alberta innovates Indiana Neurological Society Parkinson Disease Foundation Columbia University St Louis University Harvard University and the University of Michigan CA Ross declares no conflicts of interest NR Downing declares no conflicts of interest AL Kratz currently has research grants from the NIH and the Craig H Neilsen Foundation she is also supported by grant funding from the NMSS she declares no conflicts of interest MK McCormack currently has grants from the NJ Department of Health he declares no conflicts of interest MA Nance declares no conflicts of interest KA Quaid has research funding from NIH NIA NCRR NINDS and CHDI She also has funding from HDSA She has no conflicts of interest to declare JC Stout has received research funding in the past three years from the Australian National Health and Medical Research Council University College London the CHDI Foundation Prana Biotechnology and the University of California Davis She is a Director of Stout Neuropsych Pty Ltd which has received funding from Omeros Teva Pharmaceuticals Vaccinex and Isis She has been a consultant to Prana Biotechnology and Roche She receives compensation as a member of the Board of the Huntington’s Study Group RC Gershon receives research funds from numerous NIH institutes and the Department of Defense He also receives consulting funds from AO Outcome Center LLC a forprofit arm of the nonprofit AO Foundation and the American Board of Foot and Ankle Surgery RE Ready declares that she has no conflicts of interest JA Miner is supported by research grants from the NIH she declares no conflict of interest SK Barton is supported by grant funding from the Huntington’s Disease Society of America CHDI Foundation and the NIH She declares no conflicts of interest SL Perlman is supported by grant funding from the NIH CHDI FARA NAF and several pharmaceutical companies Edison Horizon Pfizer Reata Retrotope Shire Teva she declares no conflicts of interest SM Rao has received research grants from NIH Department of Defense National MS Society CHDI Foundation and Biogen and honoraria from the International Neuropsychological Society Biogen and Genzyme he declares no conflicts of interest S Frank receives salary support from the Huntington Study Group for a study sponsored by Auspex Pharmaceuticals There is no conflict of interest I Shoulson has received research grants from the Food and Drug Administration FDA National Institutes of Health NINDS NHGRI and the Parkinson’s Disease Foundation NY NY He has also received speaker honoraria from the American Academy of Neurology and JAMA Neurology as an associate editor Since May 2014 Dr Shoulson has been a nonexecutive director of Prana Biotechnology Ltd Melbourne Australia for which he is compensated for director and consulting services but has no equity positions or stock options in the company He declares no conflicts of interest as a coauthor of the submitted research report H Marin currently has grants from the NJ Department of Health he declares no conflicts of interest MD Geschwind currently has research grants from the NIH/NIA and Quest Diagnostics he is also supported by grant funding from Cure PSP and Tau Consortium He does consulting for MedaCorp Inc GersonLehrman Group Best Doctors Advance Medical Inc and Optio LLC He receives compensation for multiple Grand Round lectures He also gets funding for his research work from the Michael J Homer Family Fund He discloses no conflicts of interest P Dayalu currently has research grants from the NIH AstraZeneca and Vaccinex He declares no conflicts of interest SM Goodnight is supported by grant funding from the NIH and the Craig H Neilsen Foundation she declares no conflicts of interest D Cella receives grant funding from the National Institutes of Health and reports that he has no conflicts of interestAll procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards

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