Background:
Circadian disruption occurs when your internal body clock is out of sync with your environment, increasing risk for cardiometabolic and psychiatric disorders. By studying circadian rhythm sleep-wake disorder (CRSWD) patients, we use extreme phenotypes to understand the genetic underpinnings of and treat disrupted circadian rhythms.
Methods:
We surveyed 50 CRSWD patients to identify areas for improvement in research, diagnosis, and treatment. Concurrently, we conducted a remote, direct-to-participant study investigating the efficacy of at-home, self-directed dim-light melatonin onset (DLMO) collections to assess circadian disruption. We sent phenotyping kits to 11 individuals of varying chronotypes to complete two at-home DLMOs a week apart.
Results:
Survey results indicate a need for more accessible diagnostics, home-based studies, and willingness to participate in home circadian phenotyping. Participants completed the at-home study with little staff intervention and high accuracy, determined by patient self-report and environmental monitors. We replicated previous findings of delayed circadian rhythm disorder patients, with and without delayed endogenous melatonin.
Conclusion:
We implemented the first remote, self-directed circadian phenotyping study, addressing primary challenges of traditional circadian disruption measurement. Our findings will help establish a validated at-home dim-light melatonin assay that may be adapted to further research and clinical use in many disorders.