Rare Disease Report

NLA Scientific Sessions: Preview

MAY 16, 2017
James Radke
Later this week, Rare Disease Report will be attending the National Lipid Association (NLA) Scientific Sessions in Philadelphia, and hopes to provide the community with a variety of interest points from the meeting.
Among the highlights will be a summary of a special session on familial chylomicronemia syndrome (FCS) with Daniel Rader, MD, FNLA and Richard Dunbar, MD from the University of Pennsylvania and Daniel Gaudet, MD from the University of Montreal.
FCS is a rare, hereditary disorder, characterized by extremely high triglyceride levels and risk of pancreatitis. Patients with FCS have inadequate levels of lipoprotein lipase that helps breakdown chylomicrons. People with this condition have extremely high levels of triglycerides, up to 10 times the acceptable range. Currently, there are several drugs in development to treat FCS but at present, there no approved drugs for this condition. Patients must adhere to a strict low fat diet to reduce the risk of pancreatitis.
Last month, Seth Baum, MD of Preventive Cardiology provided an overview of the most advanced orphan drug in development for treating FCS – the antisense drug volanesorsen.
In the phase 3 APPROACH trial, 66 FCS patients received volanesorsen or placebo and the study found the volanesorsen-treated patients (n=33) achieved a statistically significant (P < .0001) mean reduction in triglycerides of 77% from baseline after 3 months of treatment, compared to a mean increase of 18% in placebo-treated patients (n=33).  Further, the reduction on triglycerides was sustained over the 52-week treatment period and none of the patients taking volanesorsen with a history of pancreatitis suffered an attack.
More details on this, and other drugs in development for FCS patients are expected to be presented at NLA Scientific Sessions.
In addition to FCS, there will also be a special session on rare lipid disorders, including discussion on:
  • Familial dysbetalipoproteinemia by Paul N. Hopkins, MD, MSPH, FNLA from the University of Utah.
    • Familial dysbetalipoproteinemia is a genetic condition due to a mutation in apolipoprotein E (ApoE). Patients have elevated cholesterol and triglyceride levels, and decreased HDL levels.
    • The disease leads to premature atherosclerosis and patients are at high risk for early onset of coronary artery disease and peripheral vascular disease leading to a heart attack.
  • Sitosterolemia by Joyce L. Ross, MSN, CRNP, CLS, FNLA from the University of Pennsylvania.
    • Sitosterolemia is a rare genetic disorder in which patients absorb 15% - 60% of ingested dietary sterols (healthy people absorb about 5%).
    • Sitosterolemia patients develop hypercholesterolemia, tendon and tuberous xanthomas, premature development of atherosclerosis, and abnormal hematologic and liver function test results.
    • The disease is extremely rare and not fully understood. Currently, the disease is managed by a strict diet that is low in foods rich in plant sterols (e.g., vegetable oils, olives and avocados) and the drug ezetimibe in combination with bile-acid resins.
  • Lipoprotein-X disease by Laurence S. Sperling, MD from Emory University.
    • The data available on lipoprotein x disease is limited, and Dr Sperling’s presentation on this condition is highly anticipated.
Other rare lipidemias RDR plans to cover include LAL deficiency and HoFH.
Look for these articles from the NLA Sessions starting on Friday.

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