Mitochondrial disease patient motivations and barriers to participate in clinical trials

• Published in: PloS one Vol. 13; no. 5; p. e0197513
• Main Authors: Zolkipli-Cunningham, Zarazuela, Xiao, Rui, Stoddart, Amy, McCormick, Elizabeth M., Holberts, Amy, Burrill, Natalie, McCormack, Shana, Williams, Lauren, Wang, Xiaoyan, Thompson, John L. P., Falk, Marni J.
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 17.05.2018; Public Library of Science (PLoS)
• Subjects: Adolescent; Adult; Aged; Antioxidants; Attitude to Health; Care and treatment; Child; Child, Preschool; Children & youth; Clinical trials; Clinical Trials as Topic - economics; Clinical Trials as Topic - psychology; Cohort Studies; Collaboration; Design; Design factors; Developmental Disabilities - etiology; Developmental Disabilities - psychology; Disease; Drug development; Epilepsy - etiology; Epilepsy - psychology; Fatigue; Female; Genetic aspects; Health care facilities; Health Expenditures; Hospitals; Humans; Infant; Informed Consent; Intolerance; Lead; Male; Medical research; Medicine; Medicine and Health Sciences; Middle Aged; Mitochondria; Mitochondrial diseases; Mitochondrial Diseases - drug therapy; Mitochondrial Diseases - psychology; Mitochondrial DNA; Molecular chains; Motivation; Muscle Weakness - etiology; Muscle Weakness - psychology; Muscles; Muscular dystrophy; Muscular fatigue; Patient Acceptance of Health Care - psychology; Patients; People and Places; Phlebotomy - psychology; Public health; Rare diseases; Research and Analysis Methods; Research Design; Severity of Illness Index; Software; Surveys and Questionnaires; Symptom Assessment; Young Adult; New York; United States > US; Pennsylvania
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0197513

Clinical treatment trials are increasingly being designed in primary mitochondrial disease (PMD), a phenotypically and genetically heterogeneous collection of inherited multi- system energy deficiency disorders that lack effective therapy. We sought to identify motivating factors and barriers to clinical trial participation in PMD. A survey study was conducted in two independent mitochondrial disease subject cohorts. A discovery cohort invited subjects with well-defined biochemical or molecularly- confirmed PMD followed at a single medical center (CHOP, n = 30/67 (45%) respondents). A replication cohort included self-identified PMD subjects in the Rare Disease Clinical Research Network (RDCRN) national contact registry (n = 290/1119 (26%) respondents). Five-point Likert scale responses were analyzed using descriptive and quantitative statistics. Experienced and prioritized symptoms for trial participation, and patient attitudes toward detailed aspects of clinical trial drug features and study design. PMD subjects experienced an average of 16 symptoms. Muscle weakness, chronic fatigue, and exercise intolerance were the lead symptoms encouraging trial participation. Motivating trial design factors included a self-administered study drug; vitamin, antioxidant, natural or plant-derivative; pills; daily treatment; guaranteed treatment access during and after study; short travel distances; and late-stage (phase 3) participation. Relative trial participation barriers included a new study drug; discontinuation of current medications; disease progression; daily phlebotomy; and requiring participant payment. Treatment trial type or design preferences were not influenced by population age (pediatric versus adult), prior research trial experience, or disease severity. These data are the first to convey clear PMD subject preferences and priorities to enable improved clinical treatment trial design that cuts across the complex diversity of disease. Partnering with rare disease patient communities is essential to effectively design robust clinical trials that engage patients and enable meaningful evaluation of emerging treatment interventions.