An open label, multi-center trial of Glybera® (alipogene tiparvovec) for the treatment of LPLD Patients
Brief Description Of Study
Researchers at the University of Pennsylvania are conducting a clinical study (trial) with a gene therapy, alipogene tiparvovec, in adult patients with lipoprotein lipase deficiency (LPLD).The purpose of the study is to understand how safe and effective alipogene tiparvovec is in the treatment of patients with LPLD. We are looking for adults with lipoprotein lipase deficiency (LPLD) to participate in the study.
Detailed Study Description
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.
Additional Information About The Study
The study is enrolling men and women aged 18 and over. Participants must have a confirmed diagnosis of LPLD (genetic testing will be done as part of the screening process) as well as a history of severe or multiple pancreatitis attacks. Additional lab tests will be done in order to confirm eligibility. Women with positive pregnancy tests or who are breastfeeding are not eligible to participate. Other key exclusions include use of oral contraceptives (birth control pills), previous treatment with a gene therapy product, and allergy or other condition causing an inability to receive any of the study-related medications.