Abstract
BackgroundFamilial chylomicronemia syndrome (FCS), a rare genetic disorder characterized by high levels of circulating triglycerides, negatively impacts multiple organs, including the liver and pancreas.ObjectiveThe objective of this study was to develop and support the content validity of a novel patient-reported outcome (PRO) measure addressing FCS symptoms and impacts. To facilitate use in clinical trials of new treatments, evidence supporting the new measure needed to be consistent with regulatory guidance and requirements.MethodsA pool of items addressing symptoms and impacts of FCS was initially developed based on data from a large burden-of-illness study with patients with FCS as well as a review of available literature and existing PRO measures. Two rounds of qualitative interviews were conducted with patients with FCS (N = 10) to refine the draft items and support the measure’s content validity. Each interview began with concept elicitation followed by cognitive debriefing of the draft FCS measure.ResultsPatient-reported symptoms and impacts of FCS were generally consistent with those identified by the burden-of-illness study; abdominal pain was particularly prevalent and salient for patients. Suggested changes to the draft item pool were generally minor. Comprehensibility and ease of completion for the final instrument were confirmed during the second set of interviews.ConclusionThe content validity of the final 17-item FCS Symptoms and Impacts Scale is strongly supported by patient input gathered through both a large burden-of-illness study and qualitative research. To further support use in clinical trials, psychometric evaluation of the measure is underway.
Highlights
Familial chylomicronemia syndrome (FCS), a rare genetic disorder characterized by high levels of circu‐ lating triglycerides, negatively impacts multiple organs, including the liver and pancreas
Qualitative interview participants In total, 10 patients with FCS participated in qualitative research interviews discussing their FCS symptoms and the impacts that FCS had on their lives as well as providing feedback on the draft instrument
In alignment with best practices for patient-reported outcome (PRO) measure development outlined by the Food and Drug Administration (FDA), concepts of importance to patients were identified from the results of a large burden-of-illness study of adults with FCS and a review of the relevant clinical literature, and feedback on the content and format of the measure was collected through two rounds of qualitative interviews with patients with FCS
Summary
Familial chylomicronemia syndrome (FCS), a rare genetic disorder characterized by high levels of circu‐ lating triglycerides, negatively impacts multiple organs, including the liver and pancreas. Familial chylomicronemia syndrome (FCS) is a rare genetic disorder characterized by high levels of circulating triglycerides, which result in negative impacts on multiple organs, including the liver and pancreas [1]. Clinical signs and symptoms of FCS include xanthomas, The use of patient-reported outcome (PRO) measures is common in clinical trials and has been noted to be crucial to trials in rare diseases [4–6]. Generic PRO measures can address some of the symptoms and impacts that patients experience, there are no existing PRO instruments designed to comprehensively capture the concepts of importance to patients with FCS. The resulting instrument, the FCS Symptoms and Impacts Scale, is described and presented here
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
