Qualitative evaluation of the symptoms and quality of life impacts of long-chain fatty acid oxidation disorders

Background: Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of rare autosomal-recessive genetic disorders characterized by metabolic deficiencies in which the body is unable to convert long-chain fatty acids into energy. To date, however, there is limited understanding of the patient experience of LC-FAOD. Methods: The symptoms, observable signs, and quality of life (QoL) impacts associated with LC-FAOD were explored via a focus group ( n = 8) and semi-structured interviews ( n = 6) with patients and caregivers of patients with LC-FAOD, and interviews ( n = 4) with expert clinicians. Data were analyzed via thematic analysis and summarized in a conceptual model. Results: Participants reported a wide range of signs and symptoms associated with LC-FAOD, broadly categorized as musculoskeletal, endocrine/nutritional/metabolic, neurological, gastrointestinal/digestive, sensory, cardiovascular, respiratory, urological, and constitutional. LC-FAOD were reported to have a significant impact on various aspects of patients’ lives including physical functioning, participation in daily activities, emotional/psychological wellbeing, and social functioning. Lifestyle modifications (such as diet and exercise restrictions) were necessary because of the condition. Symptoms were typically episodic in presentation often arising or exacerbated during catabolic conditions such as prolonged exercise, fasting, physiological stress, and illness/infection. Symptoms were also commonly reported to lead to emergency room visits, hospitalization, and clinical complications. Conclusion: LC-FAOD have a considerable impact on patients’ lives. There is a high degree of concordance in the signs, symptoms, and impacts of LC-FAOD reported by patients, caregivers, and clinicians; however, there were many symptoms and impacts that were only reported by patients and caregivers, thus demonstrating that insights from patient/caregiver experience data are integral for informing medical product development and facilitating patient-centered care.

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PP531 Quality Of Life Of Patients With Long-Chain Fatty Acid Oxidation Disorders Before And During Treatment With Triheptanoin

International Journal of Technology Assessment in Health Care ◽

10.1017/s026646232000197x ◽

2020 ◽

Vol 36 (S1) ◽

pp. 41-41

Author(s):

Eliza Kruger ◽

Deborah Marsden ◽

Arielle Bensimon ◽

Erin Cook ◽

Eli Orvis ◽

...

Keyword(s):

Quality Of Life ◽

Fatty Acid ◽

Fatty Acid Oxidation ◽

Chain Fatty Acid ◽

Acid Oxidation ◽

Long Chain Fatty Acid ◽

Fatty Acid Oxidation Disorders ◽

Conversion Algorithm ◽

Long Chain

IntroductionLong-chain fatty acid oxidation disorders (LC-FAOD) are a group of serious diseases in which patients are at risk of metabolic decompensation, resulting in cardiomyopathy, hypoglycemia and rhabdomyolysis and premature mortality. In addition, LC-FAOD are a burdensome disease that adversely effects quality of life (QoL) via symptoms of muscle pain, fatigue, and a difficult diet. Previous studies have reported improvements in QoL during treatment with triheptanoin as measured by short form (SF) instruments. This study sought to convert the QoL measure into a utility value for a sample of patients with LC-FAOD at baseline and 78 weeks during treatment with triheptanoin.MethodsIn an open-label Phase 2 study of triheptanoin (UX007-CL201, NCT01886378), caregivers of patients (n = 9/23 enrolled) or patients aged 18+ years (n = 6/6 enrolled) completed the SF-10 or the SF-12v2, respectively. Component summary scores at baseline and 78-week during treatment period were converted to EuroQol-Five Dimension (EQ-5D) utility (with zero representing death and 1.0 perfect health) using a published conversion algorithm (Lawrence and Fleishman 2004). Generalized linear mixed-effects models with individual-level random effects were used to estimate the utility values.ResultsAt baseline, patients’ utility was estimated to be 0.365 (standard error [SE] = 0.090) compared with 0.629 (SE = 0.072) 78-weeks during treatment, a significant improvement (p = 0.0073). In a sensitivity analysis using SF-12v2 data only (that is, only adult patients), utility estimates were 0.498 (SE = 0.084) at baseline versus 0.690 (SE = 0.068) during treatment (p = 0.0499). No patients had a major clinical event during the SF instrument recall period, indicating the benefit was driven by day-to-day improvement in QoL.ConclusionsTreatment with triheptanoin resulted in a substantial improvement in daily QoL for patients with LC-FAOD. Limitations of this study include that the estimation of utilities is from a single-arm study with small sample sizes and that the assessment of utility was based on a conversion algorithm rather than direct measurement. Nevertheless, results indicate significant improvement in QoL for patients treated with triheptanoin.

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