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.
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.
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.
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.