An open label, multi-center trial of Glybera® (alipogene tiparvovec) for the treatment of LPLD Patients

Lipoprotein lipase deficiency (LPLD), also know as familial lipoprotein lipase deficiency, is a rare genetic metabolic disorder characterized by a deficiency of the enzyme lipoprotein lipase (LPL) in the body. Deficiency of the LPL enzyme in the body prevents affected individuals from properly breaking down certain fats. This results in very large accumulation of fatty droplets called chylomicrons in the blood stream (chylomicronemia) and consequently, an increase of fatty substances called triglycerides in the blood. Individuals with LPLD often experience episodes of abdominal pain, acute recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as eruptive xanthomas. Alipogene tiparvovec is a gene therapy that transfers a working copy of the LPL gene into cells via a carrier (vector). Alipogene tiparvovec is given through one-time, multiple intramuscular injections into the legs, given under anesthesia. Participation in this trial may involve up to 14 visits to the University of Pennsylvania, including 4 overnight stays, over a 2 year span. You will be asked to maintain a very low-fat diet, and to record your dietary intake for several days prior to study visits. Other study procedures include: blood, urine, and stool collections, ECG, physical examination, completion of health questionnaires, and MRI.