Patient, Socioeconomic, and Clinical Influences on Clinical Trial Participation in Stargardt Disease
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Importance
Multiple clinical trials for Stargardt disease are ongoing, as there is no treatment available for this condition. However, timely recruitment of clinical trial participants remains challenging, risking incomplete study cohorts and prolonged study timelines that together escalate the possibility of trial failure. Factors associated with clinical trial participation in Stargardt are poorly understood. Identifying drivers of clinical trial participation and genetic testing completion may improve trial design and access.
Objective
To identify demographic and clinical factors associated with clinical trial participation and genetic testing completion in Stargardt.
Design
Retrospective cohort study of patients seen at a genetic eye disease center from January 2003 to December 2024. Associations were evaluated using bivariate analysis and multivariable logistic regression.
Setting
Single-center study at a tertiary referral center.
Participants
280 patients clinically diagnosed with Stargardt disease [median (IQR) age at presentation 37 (20-52) years; follow-up 4.5 (1.6-10.1) years].
Exposures
Demographic and clinical factors, including race, insurance, education, employment, parenting status, age of onset, and genetic counseling history.
Main Outcomes and Measures
Genetic testing completion (all participants) and clinical trial participation (among ABCA4- positive participants).
Results
Among 280 participants, 246 (88%) completed genetic testing. Among 223 ABCA4 -positive participants, 45 (20%) had enrolled in a clinical trial. Clinical trial participation was associated with later onset [≥60 years; OR (95% CI) 36.7 (2.5-537.1)], part-time employment [9.3 (1.01-172.9)], and was less likely among retired individuals [0.014 (0.0005-0.4)] or those without genetic counseling [0.22 (0.07-0.71)]. In multivariable analysis, genetic testing completion was less likely in participants who were Black [0.40 (0.16-0.98)], under/uninsured [0.47 (0.19-0.97)], without genetic counseling [0.09 (0.03-0.22)], or not planning to have children [0.35 (0.14-0.89)]. Common reasons for non-completion included loss to follow-up, refusal, and awaiting genetic counseling.
Conclusions and Relevance
In this large single-center cohort, one in five participants with molecularly confirmed Stargardt had enrolled in a clinical trial. Older age of onset, part-time employment, and genetic counseling may promote clinical trial participation among Stargardt patients, while retirement may be negatively associated. These findings may ultimately support the development of rational strategies to accelerate clinical trial enrollment, thereby broadly supporting the development of effective treatments for Stargardt disease.
