Rare Disease Report

Cardiovascular

Deya Corzo, MD, FAAP, FACMG, vice president of US medical affairs at uniQure talks about the clinical trial the company has planned in North America to study the safety and efficacy of Glybera (alipogene tiparvovec) for the treatment of patients with lipoprotein lipase deficiency (also known as familial chylomicronemia syndrome).
Don WIlson, MD, FNLA, of Cook Children's Physician Network in Fort Worth, Texas describes a case of a young boy diagnosed with primary sclerosing cholangitis, an extremely rare autoimmune hepatobiliary disease.
Later this week, the National Lipids Association (NLA) Scientific Sessions will begin in Chicago, Illinois, and will showcase numerous scientific and clinical data on a number of rare lipid conditions.
James Underberg, MD, of NYU Langone Medical Center describes familial chylomicronemia syndrome (FCS), a very rare hereditary condition in which individuals lack properly functioning lipoprotein lipase (LPL), an enzyme that clears triglycerides from plasma.
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of inherited connective tissue disorders that can vary from loose joints to life-threatening complications, depending on type.
In February 2015, the US Food and Drug Administration (FDA) granted orphan drug designation to andexanet alfa, a novel antidote to drugs taken to inhibit factor Xa (FXa).
In February 2015, the US Food and Drug Administration (FDA) granted orphan drug designation to andexanet alfa, a novel antidote to drugs taken to inhibit factor Xa (FXa).
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of inherited connective tissue disorders that can vary from loose joints to life-threatening complications, depending on type. The vascular form of EDS, which is estimated to affect 1 in 250,000 people
Candace Moose, Co-Founder and President of the Board of the Myocarditis Foundation talks about the origins of the foundation and its current offerings to help advance awareness and research for myocarditis.
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal disease caused by decreased activity of the LAL enzyme.
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