Developing New Tools to Assess the Impact of Familial Chylomicronemia Syndrome


The development of new tools to quantify the many ways that rare diseases like FCS can affect patients is imperative.

In recent years, research targeting new treatments for rare diseases has expanded rapidly. An essential element of this research is understanding the impact that these diseases have on patient health and quality of life. Unfortunately, in many cases this information is very limited—if it exists at all. In addition, the tools necessary to provide researchers and others with clear and quantifiable information are often not available.

In many cases, this research is based on patient-reported outcome measures (PROMs). Researchers use a process potentially involving interviews and online surveys to assess the impact of a disease on different areas of patient physical and emotional health and quality of life. While PROMs can be very effective, they must be carefully customized to address the specific symptoms and mechanisms of each disease or condition. They are often too general and unfocused to provide substantial new insights. In rare diseases, information is also collected from a limited—often very limited—patient population, making it highly unlikely to achieve statistical significance. Technological advances also provide the opportunity to design alternative and more advanced methods for data collection, such as wearable devices that can gather data in real-time and potentially improve patient monitoring and disease management.

The recent effort to study the impact of familial chylomicronemia syndrome (FCS) highlights the benefits that this research, when executed effectively, can have. FCS is caused by an impaired enzyme called lipoprotein lipase that leads to the abnormal build-up of triglycerides in the body. Symptoms can range in severity and frequency and can include abdominal pain, fatigue, brain fog, and potentially fatal attacks of acute pancreatitis.

The team at Akcea Therapeutics collected many first-time insights on disease burden in FCS through a study called IN-FOCUS that involved input from 166 individuals with FCS in 10 countries. The study was designed to assess the experience of living with FCS from several perspectives that are unique to this disease. The goal was to gain new insights about the impact of cognitive, emotional, and physical impairments associated with FCS and how they might affect patient quality of life, careers, activities of daily living, and ability to handle many common responsibilities.

A follow-up retrospective global survey of 22 patients with FCS was then conducted to provide further insights on the burden of disease in FCS. Findings from the Re-FOCUS survey were recently published in the peer-reviewed journal Expert Review of Cardiovascular Therapy. In the survey, patients were asked to assess the number and severity of a range of physical, emotional, and cognitive symptoms both before and following treatment with the investigational therapy volanesorsen. A 7-point Likert scale (1 = strongly disagree; 7 = strongly agree) was used to assess patients’ perceptions of and experience with managing FCS symptoms while a different 7-point Likert scale (1 = no interference at all; 7 = significant interference) was used to determine the impact of FCS on respondents’ personal, social, and professional life. Patients reported on how FCS impacts their ability to handle responsibilities at work or school, visit restaurants, take vacations, exercise, care for their families and handle housework. Respondents also highlighted the many ways that FCS can affect their feelings of self-worth and sleep quality. These results highlight the significant unmet need in FCS and the importance of developing an approved treatment that could help ease the burden of disease for these patients.

Disease-specific designed studies like IN-FOCUS and Re-FOCUS can provide important insights that can help in the design and validation of new tools including PROMs that can accurately evaluate disease burden associated with unique diseases, like FCS and potentially many other rare diseases.

Mike Stevenson joined Akcea as Vice President, Global Medical Affairs in November 2015. He has more than 18 years of experience in the pharmaceutical industry and has led various teams through multiple successful product launches. His experience spans across all levels and roles within medical affairs and he brings considerable knowledge of all functions and operations within the medical affairs purview. Dr Stevenson holds a bachelor’s degree in pharmacy from Duquesne University as well as a PhD in pharmacology from Louisiana State University.

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