0689 A Conceptual Disease Model of the Symptoms and Impacts of Narcolepsy Type 1 from the Patient Perspective

Abstract Introduction The diagnostic pentad for narcolepsy type 1 (NT1) includes cataplexy, excessive daytime sleepiness, disrupted nighttime sleep, hypnagogic/hypnopompic hallucinations, and sleep paralysis. Beyond this pentad, a broader spectrum of symptoms may impact daily functioning and quality of life. This qualitative study amplifies patient voices to identify the most bothersome and meaningful symptoms and impacts of NT1. Methods Participants were recruited through a third-party recruitment vendor, patient advocacy groups, and a patient conference. Twenty adults diagnosed with NT1 completed concept elicitation interviews discussing their experience with NT1. Interviews included open-ended questions and probes on symptoms and impacts informed by a targeted literature review. Participants rated bothersomeness (0–10) for current symptoms and impacts and reported their 3 most bothersome symptoms. Concept frequencies and bothersomeness ratings were used to evaluate salience (ie, reported by ≥50% of participants and average bothersomeness rating ≥5) and develop a conceptual disease model. Results Participants identified 30 symptoms and 38 impacts; 12 symptoms and 10 impacts were deemed salient. The most frequently reported salient symptoms included chronic daytime sleepiness (100%; mean [SD] bothersomeness: 7.4 [1.9]), unintentional daytime sleep episodes (100%; 7.2 [2.0]), memory problems (95%; 7.8 [2.2]), brain fog (85%; 7.9 [1.5]), excessive napping (85%; 6.6 [1.9]), automatic behaviors (70%; 5.7 [3.1]), difficulty concentrating (70%;7.8 [2.1]), and sleep inertia (65%;7.0 [2.7]). Chronic daytime sleepiness, brain fog, cataplexy, and memory problems were most frequently mentioned among the 3 most bothersome symptoms. Salient impacts included difficulties with planning/attending social events (90.0%; mean [SD] bothersomeness: 7.0 [2.8]), work (75%; 8.5 [1.5]), school (55%; 8.0 [1.7]), and driving (100%; 6.6 [3.3]), as well as negative impacts on relationships (50%; 7.4 [2.7]) and feeling anxious (60%; 7.6 [2.1]). Conclusion Several core narcolepsy symptoms were frequently reported by participants with NT1 but did not reach the level of saliency, underscoring the importance of symptoms beyond the pentad (eg, cognitive symptoms, brain fog, and sleep inertia). Salient impacts affected activities of daily living and behavioral/emotional, school/work, and social domains. A conceptual disease model was developed to systematically capture the lived experiences of patients with NT1 and guide future research and interventions. Support (if any) Jazz Pharmaceuticals