TY - JOUR
T1 - The development of the PlexiQoL
T2 - A patient-reported outcome measure for adults with neurofibromatosis type 1-associated plexiform neurofibromas
AU - Heaney, Alice
AU - Wilburn, Jeanette
AU - Rouse, Matthew
AU - Langmead, Shannon
AU - Blakeley, Jaishri O.
AU - Huson, Susan
AU - McKenna, Stephen P.
N1 - Funding Information:
The study was funded by Neurofibromatosis Therapeutic Acceleration Program (NTAP) The authors thank all the patients who participated in the study. The authors acknowledge the support of the National Institute of Health Research Clinical Research Network (NIHR CRN) and of the charities, support groups and clinical centres in the recruitment of patients. The authors also thank Dr Carly Jim and Jessica Stepanous for their contributions to the study.
Funding Information:
This publication was supported by an Agreement from The Johns Hopkins University School of Medicine and the Neurofibromatosis Therapeutic Acceleration Program (NTAP). Its contents are solely the responsibility of the authors and do not necessarily represent the official views of The Johns Hopkins University School of Medicine.
Publisher Copyright:
© 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.
PY - 2020/12
Y1 - 2020/12
N2 - Background: To develop and validate a patient-reported outcome (PRO) measure of quality of life (QoL), specific to patients with Neurofibromatosis Type 1 (NF1)-associated plexiform neurofibromas (pNFs), suitable for use in clinical efficacy trials. The study was conducted in parallel in the UK and US. Methods: Qualitative interviews were conducted with patients to generate questionnaire content. Face and content validity of the draft scale was assessed by cognitive debriefing interviews (CDIs). A postal validation survey was conducted to identify the final version of the questionnaire (the PlexiQoL), establish its unidimensionality, and assess its psychometric properties. Results: Thematic analysis was performed on 42 interview transcripts. Thirty-one CDIs revealed that patients found the draft scale to be comprehensible, relevant, and easy to complete. The postal validation survey was completed by 273 patients. Rasch analysis identified an 18-item unidimensional scale that showed excellent internal consistency, reproducibility, and sensitivity to differences in patient-perceived pNF severity, general health, and the use of pain medication. Conclusions: The PlexiQoL is the first disease-specific PRO assessing the ability of adults with NF-1 associated pNFs to meet their basic human needs. Clinical trials are planned to assess the sensitivity to change of the PlexiQoL in people undergoing treatment for pNFs.
AB - Background: To develop and validate a patient-reported outcome (PRO) measure of quality of life (QoL), specific to patients with Neurofibromatosis Type 1 (NF1)-associated plexiform neurofibromas (pNFs), suitable for use in clinical efficacy trials. The study was conducted in parallel in the UK and US. Methods: Qualitative interviews were conducted with patients to generate questionnaire content. Face and content validity of the draft scale was assessed by cognitive debriefing interviews (CDIs). A postal validation survey was conducted to identify the final version of the questionnaire (the PlexiQoL), establish its unidimensionality, and assess its psychometric properties. Results: Thematic analysis was performed on 42 interview transcripts. Thirty-one CDIs revealed that patients found the draft scale to be comprehensible, relevant, and easy to complete. The postal validation survey was completed by 273 patients. Rasch analysis identified an 18-item unidimensional scale that showed excellent internal consistency, reproducibility, and sensitivity to differences in patient-perceived pNF severity, general health, and the use of pain medication. Conclusions: The PlexiQoL is the first disease-specific PRO assessing the ability of adults with NF-1 associated pNFs to meet their basic human needs. Clinical trials are planned to assess the sensitivity to change of the PlexiQoL in people undergoing treatment for pNFs.
KW - PlexiQoL
KW - neurofibromatosis type 1
KW - patient-reported outcome measure
KW - plexiform neurofibromas
KW - quality of life
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U2 - 10.1002/mgg3.1530
DO - 10.1002/mgg3.1530
M3 - Article
C2 - 33085177
AN - SCOPUS:85092917358
SN - 2324-9269
VL - 8
JO - Molecular Genetics and Genomic Medicine
JF - Molecular Genetics and Genomic Medicine
IS - 12
M1 - e1530
ER -