The Circadia Study (Circadia) is a novel direct to participant research study investigating the genetics of circadian rhythm disorders. The long-term goals of this study are to better understand the genetics of circadian rhythm disorders, investigate the efficacy and accessibility of an at-home, self-directed DLMO collection, to improve health outcomes in the future for patients with circadian rhythm disorders, and to address the specific needs of the circadian rhythm disorder patient population. In this manuscript, we briefly outline the standard methods of both circadian biology research protocols and circadian rhythm disorder diagnostic procedures. We describe some of the inherent limitations of current circadian research and diagnostic methods, which motivated our development of and informed the design of the Circadia Study. We discuss the main goals of the Circadia Study, and we outline key features of our study design that build upon current study methods and address limitations. Finally, we describe specific aspects of the Circadia Study, including our study population, data collection methods, and standard operating procedures so that others may replicate aspects of the study design. Key words: Circadian rhythms; Circadian rhythm disorders; Advanced Sleep Phase Syndrome; Delayed Sleep Phase Syndrome; Non-24 Hour Sleep Wake Disorder; Melatonin; Dim Light Melatonin Onset
Introduction Circadian rhythm sleep-wake disorders (CRSWDs), shifted timing of physiology with the external environments. CRSWDs, often undiagnosed, can increase risk of cardiometabolic and psychiatric disorders, and may have substantial financial and social impacts. Dim light melatonin onset assay (DLMO), the current gold-standard diagnostic test for CRSWDs is expensive/difficult. We aim to develop a more accessible melatonin assessment. Methods Our DLMO assay kit is low-cost, home-based and self-administered. It contains all necessary components for a home-based DLMO assay, including 18 time-stamped saliva samples, a Philips Actiwatch, and a lux meter. We tested the feasibility of the kit across two DLMO assessments, one-week apart, in CRSWDs patients (N=5) and controls (N=5). We concurrently assessed sleep with wrist actigraphy and sleep diary over four weeks through a self-guided study website. Results We enrolled participants with delayed (n=4) and advanced (n=1) sleep disorder and 5 control participants (mean 38.2 y.o., SD 11.66 y.o.; biological sex: 9 female, 1 male (control)). Participants were 100% compliant completing questionnaires and sleep logging with little intervention and no in-person guidance. 5/10 participants completed 100% of sleep diary days. Average duration of study involvement, from consent to study completion, was 42.4 days. Participants successfully set up their collection space and collected saliva samples, remaining compliant to objectively-measured study protocols: 86.67% of samples were taken under sufficiently low light, and 82% were taken within five minutes of scheduled collection. We obtained and averaged two DLMO times for 7/10 participants (delayed sleep phase disorder (DPSD): 12:05 AM, controls: 9:56 PM). DLMO times were on average 3:18 hours earlier than self-reported sleep times. Conclusion Our pilot study, with both CRSWDs patients (N=5) and controls (N=5), found the at-home kits feasible and reproducible (5/6 participants had their DLMO times within an hour of each other). Using the kit, we confirmed their previous DSPD diagnoses and correctly classified controls through melatonin samples. We used objective measures (Actigraph) to verify the testing procedure was followed. These procedures will be tested on a larger scale in the Circadia Study (circadiastudy.org), set to launch in February 2023. Support (if any) This work was supported by the National Institutes of Health [DHHS] (grant number 1R35GM146839-01).
Study Objectives: To test the feasibility of a novel at-home salivary Dim Light Melatonin Onset (DLMO) assessment protocol to measure the endogenous circadian phase of 10 individuals ( 1 Advanced Sleep-Wake Phase Disorder patient (ASWPD), 4 Delayed Sleep-Wake Phase Disorder patients (DSWPD), and 5 controls). Methods: The study involved 10 participants (sex at birth: females = 9; male= 1), who ranged between 27 to 63 years old, with an average age of 38 years old. Our study population consisted of 7 individuals who identified as white and 3 who identified as Asian. Our participants were diverse in gender identity (woman = 7, male = 1, transgender = 1, nonbinary = 1, none = 1).The study tracked the sleep and activity patterns of 10 individuals over a 5-6 week period using self-reported online sleep diaries and objective actigraphy data. Participants completed two self-directed DLMO assessments, approximately one week apart, adhering to objective compliance measures. Participants completed the study entirely remotely: they completed all sleep diaries and other evaluations online and were mailed a kit with all materials needed to perform the actigraphy and at-home sample collections. Results: Salivary DLMO times were calculated for 8/10 participants using the Hockeystick method. DLMO times were on average 3 hours and 18 minutes earlier than self-reported sleep onset times (DSPD: 12:04 AM, controls: 9:55 PM.) Among the 6 participants for whom we calculated two separate DLMO times, DLMOs 1 and 2 were 96% correlated (p<0.0005.) Conclusions: Our results indicate that self-directed, at-home DLMO assessments are feasible and accurate. The current protocol may serve as a framework to reliably assess circadian phase in both clinical and general populations.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.