BACKGROUND: Familial chylomicronemia syndrome (FCS) is a rare genetic disorder that markedly increases plasma triglycerides (TG), causing pancreatitis, abdominal pain, and other symptoms that profoundly impact patients’ quality of life. In a randomized, placebo-controlled phase 3 study (Balance; NCT04568434), olezarsen significantly reduced TGs among adults with FCS.
OBJECTIVES/PURPOSE: To further explore the FCS patient experience during olezarsen treatment, including perceptions of meaningful changes in FCS symptoms and impacts.
METHODS: Patients with FCS (US, Canada, Spain, Italy) continuing olezarsen treatment in an open-label extension (OLE) of the Balance study participated in 1-hour semistructured qualitative interviews via telephone. Thematic analysis was conducted.
RESULTS: Eighteen of 60 OLE participants completed interviews (10 female; 55.6%); mean age at interview was 43.5 (range, 23-73) years. (See Table 1 for participant characteristics.) When interviewed, participants randomized to active drug in Balance had received olezarsen for 67-112 weeks, whereas participants randomized to placebo had received olezarsen for 4-35 weeks. Seventeen of 18 participants reported a history of pancreatitis, including 14 with pancreatitis events in the 10 years prior to enrollment in the Balance study (13/14 requiring hospitalization). Moreover, all participants reported experiencing at least 1 FCS-related symptom prior to enrollment, such as abdominal pain (n=17; 94.4%), physical fatigue (n=12; 66.7%), diarrhea (n=10; 55.6%), vomiting (n=9; 50.0%), nausea (n=6, 33.3%), and difficulty thinking (n=5, 27.8%). Fifteen participants reported being symptomatic in the absence of pancreatitis, most commonly experiencing abdominal pain (n=12). All participants reported FCS-related impacts, including dietary restrictions (n=18; 100%), mood/emotions (n=17; 94.4%), hospitalizations (n=14; 77.8%), and social activities (n=14; 77.8). Participant feedback on treatment-related improvements was based on their experiences and belief of starting olezarsen, either within Balance or OLE. Fifteen of 18 participants (83.3%) reported improvements, including reductions in FCS-related symptoms (abdominal pain [n=14/17; 82.4%], physical fatigue [n=7/12; 58.3%], diarrhea [n=6/10; 60.0%], vomiting [n=7/8; 87.5%], nausea [n=3/5; 60.0%], difficulty thinking [n=3/5; 60.0%]) and impacts (relationships [n=6/7; 85.7.0%], hospital admittances [n=11/14; 78.6%], finances [n=3/4; 75.0%], mood/emotions [n=12/17; 70.6%]). All 14 participants with pancreatitis events in the past 10 years reported pancreatitis-related improvements, including 11 (78.6%) with no pancreatitis events and 3 (21.4%) with less frequent and/or less severe events since they believed they started olezarsen treatment. Overall, most participants (15/18; 83.3%) reported meaningful improvements and indicated they were satisfied with olezarsen treatment.
CONCLUSION: Results of this qualitative study both underscore the significant burden of FCS and support the efficacy of olezarsen from the patient perspective.
