Bridging the clinical-research gap: Harnessing an electronic data capture, integration, and visualization platform to systematically assess prospective patient-reported outcomes in mitochondrial medicine.

Autor: MacMullen LE; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America., George-Sankoh I; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America; Department of Bioinformatics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America., Stanley K; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America., McCormick EM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America., Muraresku CC; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America., Goldstein A; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, United States of America., Zolkipli-Cunningham Z; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, United States of America., Falk MJ; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, United States of America. Electronic address: falkm@chop.edu.
Jazyk: angličtina
Zdroj: Molecular genetics and metabolism [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108348. Date of Electronic Publication: 2024 Feb 16.
DOI: 10.1016/j.ymgme.2024.108348
Abstrakt: Purpose: Optimizing individualized clinical care in heterogeneous rare disorders, such as primary mitochondrial disease (PMD), will require gaining more comprehensive and objective understanding of the patient experience by longitudinally tracking quantifiable patient-specific outcomes and integrating subjective data with clinical data to monitor disease progression and targeted therapeutic effects.
Methods: Electronic surveys of patient (and caregiver) reported outcome (PRO) measures were administered in REDCap within clinical domains commonly impaired in patients with PMD in the context of their ongoing routine care, including quality of life, fatigue, and functional performance. Descriptive statistics, group comparisons, and inter-measure correlations were used to evaluate system feasibility, utility of PRO results, and consistency across outcome measure domains. Real-time tracking and visualization of longitudinal individual-level and cohort-level data were facilitated by a customized data integration and visualization system, MMFP-Tableau.
Results: An efficient PRO electronic capture and analysis system was successfully implemented within a clinically and genetically heterogeneous rare disease clinical population spanning all ages. Preliminary data analyses demonstrated the flexibility of this approach for a range of PROs, as well as the value of selected PRO scales to objectively capture qualitative functional impairment in four key clinical domains. High inter-measure reliability and correlation were observed. Between-group analyses revealed that adults with PMD reported significantly worse quality of life and greater fatigue than did affected children, while PMD patients with nuclear gene disorders reported lower functioning relative to those with an mtDNA gene disorder in several clinical domains.
Conclusion: Incorporation of routine electronic data collection, integration, visualization, and analysis of relevant PROs for rare disease patients seen in the clinical setting was demonstrated to be feasible, providing prospective and quantitative data on key clinical domains relevant to the patient experience. Further work is needed to validate specific PROs in diverse PMD patients and cohorts, and to formally evaluate the clinical impact and utility of harnessing integrated data systems to objectively track and integrate quantifiable PROs in the context of rare disease patient clinical care.
Competing Interests: Declaration of competing interest MJF is engaged with several companies involved in mitochondrial disease therapeutic preclinical and/or clinical-stage development. MJF is co-founder and Chief Scientific Advisor of Rarefy Therapeutics LLC; an advisory board member with equity interest in RiboNova Inc.; a scientific advisory board member and paid consultant with Khondrion, and Larimar Therapeutics; a paid consultant for Astellas, Casma Therapeutics, Cyclerion Therapeutics, Imel Therapeutics, Mayflower, Inc., MiMo Therapeutics, Minovia Therapeutics, Mission Therapeutics, NeuroVive Pharmaceutical AB, Precision Biosciences, Primera Therapeutics, Inc., Reneo Therapeutics, Stealth BioTherapeutics, Vincere Bio; and/or a sponsored research collaborator for Astellas, Cyclerion Therapeutics, Epirium Bio, Imel Therapeutics, Khondrion, Merck, Minovia Therapeutics, Mission Therapeutics, Myto Therapeutics, NeuroVive Pharmaceutical AB, PTC Therapeutics, Reneo Therapeutics, RiboNova, Saol Therapeutics, Standigm, and Stealth BioTherapeutics. MJF also has received royalties from Elsevier and speaker fees from Agios Pharmaceuticals and GenoMind. AG is a paid consultant for Reneo Therapeutics, Cyclerion Therapeutics, and UCB Therapeutics. ZZC has received paid consultancy fees from Reneo Therapeutics, and is a sponsored research collaborator for Imel Therapeutics, Astellas, and Khondrion. None of the other authors have relevant conflicts of interest to declare.
(Copyright © 2024 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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