Patient experience with familial chylomicronemia syndrome before and after olezarsen treatment: Qualitative interviews with clinical trial participants.

BACKGROUND

Familial chylomicronemia syndrome (FCS), a rare genetic disorder, markedly increases plasma triglycerides and the risk of acute pancreatitis. FCS symptoms can profoundly impact patients' quality of life.

OBJECTIVE

To explore the FCS patient experience during olezarsen treatment, including perceptions of meaningful changes in FCS symptoms and impacts.

METHODS

Patients with FCS continuing olezarsen treatment in an open-label extension (OLE) (NCT05130450) of the randomized, placebo-controlled phase 3 Balance study (NCT04568434) participated in 1-hour qualitative interviews. Thematic analysis was conducted.

RESULTS

Among 18 OLE participants who completed interviews (55.6% female; mean age, 43.5 years), 17 reported a history of pancreatitis, including 14 with pancreatitis events within 10 years prior to enrollment in the Balance study (13/14 requiring hospitalization). All participants reported having experienced FCS-related symptoms before trial enrollment (most commonly, abdominal pain [94.4%], physical fatigue [66.7%], diarrhea [55.6%], vomiting [50.0%], nausea [33.3%], and difficulty thinking [27.8%]) and impacts (most commonly, dietary restrictions [100%], mood/emotions [94.4%], hospitalizations [77.8%], and social activities [77.8%]). Fifteen of 18 participants (83.3%) reported improvements with olezarsen treatment, 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%], and 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%], and mood/emotions [n = 12/17; 70.6%]). Most participants (15/18; 83.3%) reported meaningful improvements and indicated they were satisfied with olezarsen treatment.

CONCLUSION

Results of this qualitative study underscore the significant burden of FCS and support the effectiveness of olezarsen from the patient perspective.