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Record W4411403814 · doi:10.1016/j.jacl.2025.06.014

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

2025· article· en· W4411403814 on OpenAlexaff
Asia Sikora Kessler, T. Michelle Brown, Emily Bratlee‐Whitaker, Sheri Fehnel, Montserrat Vera Llonch, Marcello Arca, Maurizio Averna, Alexis Baass, Seth J. Baum, Jean Bergeron, Daniel Gaudet, Ovidio Muñiz-Grijalvo, Veronica Alexander, Sotirios Tsimikas

Bibliographic record

VenueJournal of clinical lipidology · 2025
Typearticle
Languageen
FieldMedicine
TopicLipid metabolism and disorders
Canadian institutionsCentre hospitalier de l'Université LavalUniversité de MontréalCentre hospitalier universitaire de QuébecMontreal Clinical Research Institute
FundersIonis Pharmaceuticals
KeywordsMedicineClinical trialPediatricsPhysical therapyFamily medicineInternal medicine

Abstract

fetched live from OpenAlex

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.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.002
metaresearch head score (Gemma)0.002
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.216
Threshold uncertainty score0.605

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0020.002
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0020.000
Bibliometrics0.0000.000
Science and technology studies0.0000.001
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.115
GPT teacher head0.480
Teacher spread0.364 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations2
Published2025
Admission routes1
Has abstractyes

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