CAMBRIDGE, Massachusetts, July 11, 2017 /PRNewswire/ --
IN-FOCUS data presented at HEART UK explore the severe impact of rare genetic disease for which there is currently no treatment
Akcea Therapeutics, a wholly owned subsidiary of Ionis Pharmaceuticals, Inc. (NASDAQ: IONS), has presented IN-FOCUS: new data on Familial Chylomicronaemia Syndrome (FCS) revealing how psychosocial and cognitive symptoms translate into reduced quality of life and an impaired ability to work for patients. While acute symptoms of this disorder are well-documented, until now there has only been minimal research into the holistic burden of FCS and its far-reaching impact on quality of life.
FCS affects approximately one to two people in a million in Europe. It is characterised by a dysfunction of lipoprotein lipase (LPL), an enzyme that breaks down chylomicrons: large lipoprotein particles that carry triglycerides in the blood shortly after the ingestion of fat. As a result, people with FCS have very high levels of triglycerides in their blood, which can cause it to appear milky in colour. FCS can cause severe abdominal pain and has the potential to lead to acute pancreatitis which can be fatal or cause permanent pancreatic damage. There is currently no treatment available for FCS and sufferers must resort to adopting severely restricted diets.
The data reveal that the emotional burden of FCS is substantial. 64% of people living with FCS consider the disease to have adversely affected their lives over the past 12 months; 57% feel that their disease is a burden to those around them. 64% reported that the disease had affected their stress/anxiety levels, 54% said it affected their mental ability, and 50% said it affected their quality of sleep. Patients reported feeling 'sad, down, blue or depressed' about their condition on a weekly basis. Anxiety, fear, or worry about having to plan what or how much they could eat also troubled them on a monthly basis.
The study highlighted cognitive symptoms of FCS that had previously been relatively undocumented. Participants in the study reported that they experienced impaired judgements as frequently as every day and difficulty hearing as often as twice a week. Severe 'brain fog', forgetfulness and recent memory loss were also reported.
"FCS impacts most areas of the life of someone who has it and those close to them. It affects everything from what they can eat to their relationships with their friends and family, their employment and their sense of self-worth," says Jill Prawer, Chair of the LPLD alliance. "FCS is often misunderstood and misdiagnosed, and we are delighted that the impact of the disorder beyond immediate acute symptoms is starting to be investigated."
FCS sufferers find themselves frequently having to access both primary and secondary healthcare services. 86% of patients in the study visited their GP for routine appointments on average 10 times in twelve months and 64% visited their GP for urgent care an average of three times. 71% visited a hospital doctor an average of three times in twelve months, 50% were hospitalised twice on average, for an average of four nights.
The study also reveals that 57.1% of FCS patients feel that the disease significantly interferes with their work and employment, and many feel constant uncertainty about having an attack of pain or acute pancreatitis multiple times per day. 43% of patients had to take an average of 11 days off work in the last twelve months due to their FCS.Outside of work, 58% said that it had influenced their decision on whether or not to have children.
IN-FOCUS was a self-reported, online, anonymous quantitative research study conducted in those diagnosed with FCS.These results reflect an interim analysis of responses from European patients. Data were presented at the HEART UK 31st Annual Medical & Scientific Congress between 5-7 July 2017.
Familial Chylomicronaemia Syndrome (FCS) is a rare genetic lipid disorder characterised by the build up of chylomicrons (chylomicronaemia), large lipoprotein particles that carry triglycerides in the blood shortly after the ingestion of fat. People with FCS cannot break down chylomicrons, causing them to have very high levels of triglycerides and blood than can appear milky in colour (lipemic). People with FCS live at risk of severe recurrent abdominal pain and potentially acute pancreatitis, long-term complications from pancreatic damage, and symptoms that can interfere with daily life. People with FCS are normally required to sustain a low fat diet of less than 20g per day.
FCS is caused by a dysfunction of Lipoprotein lipase (LPL), an enzyme that works to help break down chylomicrons in the body. The genetic mutations for FCS are inherited as an autosomal recessive trait. It is estimated to affect 1-2 in every 1 million people in the EU.
IN-FOCUS (Interim Results of the Investigation of Findings and Observations Captured in Burden of Illness Survey in Patients with FCS) aimed to establish the burden of disease in patients with FCS.
IN-FOCUS was a self-reported, online, anonymous quantitative research study, conducted with patients with FCS. The study utilised a web survey that was approximately 45 min in duration. All research materials were approved by relevant country-level ethics committee. Research questions included asking patients with FCS about their diagnosis, initial experiences with FCS, symptoms, comorbidities, FCS management and impact of FCS on different dimensions of their lives.
Across Europe, the data were collected from 14 adults patients (7 male, 7 female) from 5 countries: UK (n=8), Germany (n=2), Sweden (n=2), Spain (n=1) and Portugal (n=1) - approximately 10% of the worldwide survey population. The mean age was 36.1 years (range 19-68). The mean age at diagnosis was 9.4 years (range 1-18). 100% of patients had triglycerides .8.4mmol/l (750mg/dL) at diagnosis.
ABOUT AKCEA THERAPEUTICS
Akcea Therapeutics is a development and commercialisation company focused on transforming the lives of patients with serious cardiometabolic lipid disorders. Akcea has a robust portfolio of development-stage drugs covering multiple targets and diseases using advanced RNA-targeted antisense therapeutics.
Akcea's drug pipeline includes three novel antisense drugs designed to address a number of lipid risk factors, including ApoC-III, triglycerides, Lp(a), and LDL-cholesterol. Akcea is continuing to assemble the global infrastructure to develop and commercialise the drugs in its pipeline. Akcea is a wholly owned subsidiary of Ionis Pharmaceuticals, Inc. and is located in Cambridge, Massachusetts.
1. Davidson M et al. Interim Results of the Investigation of Findings and Observations Captured in Burden of Illness Survey in Patients with FCS (IN-FOCUS) Study: European Respondents. Presented at the HEART UK 31st Annual Medical & Scientific Conference, University of Warwick, Coventry, UK. 5-7 July 2017.
2. European Medicines Agency. Committee for Orphan Medicinal Products EMA/COMP/14515/2014. Available at: http://www.ema.europa.eu/docs/en_GB/document_library/Minutes/2014/03/WC500162743.pdf [Accessed July 2017]
3. Brunzell JD. Familial lipoprotein lipase deficiency. GeneReviews 2011.
4. NORD. Familial Partial Lipodystrophy. Available at: https://rarediseases.org/rare-diseases/familial-partial-lipodystrophy/ [https://rarediseases.org/rare-diseases/familial-partial-lipodystrophy] Accessed July 2017