Importance of Patient-Centered Research in Familial Chylomicronemia Syndrome

Familial Chylomicronemia Syndrome (FCS) Is a rare disease caused by malfunctioning lipoprotein lipase. This results in a buildup of triglycerides in the body’s plasma. FCS can cause pancreatitis, memory loss, nerve damage, abdominal pain, skin lesions, brain fog, abnormal engagement of the spleen/liver, and fatigue in addition to other symptoms. The disease affects approximately 1 person out of every 1 million. Unfortunately, there are no current approved drugs in the United States to help treat the condition. However, patients with FCS are prescribed a fat-free and alcohol-free diet which can help with the management of their symptoms.

From a purely scientific evaluation, it is clear that more research is needed to develop effective therapies for this disease. However, in order to most accurately determine what type of therapies are needed, we have to ask the individuals who are actually affected by FCS in their daily lives.

For instance, a researcher may spend all of their time developing a brilliant therapy to treat a symptom of a condition which they believe would be beneficial to patients. But they may actually have used their time ineffectively if a different symptom more dramatically affects the patients quality of life.

Researchers must talk to the people living with rare conditions in order to really understand how to use their expertise to best improve patients physical health, emotional health, and overall wellbeing.

Talking to Patients

It can be difficult to obtain this type of information for any condition, but especially rare diseases whose patient population is already so small. Even when this data is gathered it may not be enough to be statistically significant purely because of the sample size.

This research is called patient-reported outcome measures or PROMs. Drug developers may use surveys or interviews to collect this data. However, they’re only effective when they are made extremely specific to the mechanisms and symptoms of the disease at hand. Thanks to technological advancements, things like wearable patient monitoring devices can help ensure the correct data is being documented.

FCS Patient-Centered Research

A recent study by Akcea Therapeutics for FCS has provided clear evidence of the benefits this form of research can have when it is properly executed. The study, called IN-FOCUS, spanned 10 countries and included 166 patients living with Familial Chylomicronemia Syndrome. It’s goal was to better understand what symptoms of the condition most drastically impact patient’s daily activities, careers, responsibilities, and quality of life. Emotional, physical, and cognitive impairments were examined.

Following completion of this study, a survey was conducted with 22 patients in order to obtain additional insight into the disease burden of FCS. This survey was called Re-Focus. It used a Likert scale to assess the severity of symptoms before, and then after, treatment with volanersorsen (an investigational therapy). Some of the data collected by this survey included the impact of volanersorsen on FCS for improving-

  • Social Life
  • Professional Life
  • Personal Life
  • Exercise
  • Ability to travel
  • School
  • Going out to eat
  • Ability to handle work
  • Ability to care for others
  • Ability to do housework
  • Feelings of self-worth
  • Sleep Quality

Full data from Re-FOCUS can be found published in the Expert Review of Cardiovascular Therapy. Overall, this survey and the IN-FOCUS study indicated a clear unmet need in the research of therapies which address patient’s most burdensome symptoms. Hopefully we will see this study translate into not only new research for FCS, but in better design of PROMs and patient-centered research for other rare diseases.

You can read more about this FCS study and the need for patient-centered research evaluations here.


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