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 (

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.

Informations de copyright

© The Author(s), 2022.

Déclaration de conflit d'intérêts

Conflict of interest statement: The authors declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: Rebecca Williams-Hall, Katie Tinsley, and Adam Gater are all employees of Adelphi Values, a health outcomes research agency commissioned by Ultragenyx Pharmaceutical Inc. to conduct the research outlined in this manuscript. Chloe Johnson was an employee of Adelphi Values at the time this research was conducted. Eliza Kruger and Tricia Cimms are employees and shareholders of Ultragenyx Pharmaceutical Inc. Alexandra Bowden was an employee and shareholder of Ultragenyx at the time this research was conducted.