Gene Therapy Appears Effective for Familial Chylomicronemia Syndrome

According to a story from eurekalert.org, the first patient that received treatment with alipogene tiparovovec reported positive results after an eighteen month treatment period. Alipogene tiparovovec is a gene therapy that has gained approval in the EU for the treatment of familial chylomicronemia syndrome, also known as lipoprotein lipase deficiency.

Familial chylomicronemia syndrome (FCS) is a genetically linked lipid deficiency disorder in which patients are lacking the ability to lipoprotein lipase enzymes that are essential for the breakdown of triglycerides. The result of this is that fatty triglyceride molecules appear in the blood at severely elevated levels. When detected in infancy, symptoms include pain similar to colic and failure to thrive. The first pregnancy or the use of supplemental estrogen can trigger the onset of symptoms for women with the disorder. For most patients, the most common symptoms are chronic abdominal pain and acute pancreatitis. Pancreatitis can be a life threatening condition and can lead to problems such as diabetes and pancreatic insufficiency. Treatment involves a strict diet that is low fat and avoids simple carbs as well as the use of lipid lowering medication. To learn more about familial chylomicronemia syndrome, click here.

Alipogene tiparovovec was first approved for use in 2012 in Europe. However, the only person to actually get treated using the drug is the patient in the study. The treatment is indicated for patients that experience frequent, severe bouts of pancreatitis even when following dietary limitations closely. The fact that only one patient has used it suggests that lipid lowering drugs and diet changes are normally sufficient for most patients.

During the eighteen month treatment period, the patient was essentially symptom free thanks to the gene therapy, experiencing no abdominal pain or pancreatitis attacks. The patient was able to quit earlier medications and experienced improvements in overall quality of life. It is worth noting that this patient had experienced 37 individual pancreatitis attacks in the past, highlighting the severity of FCS in this case.

Despite the fact that the drug appears to work well, the manufacturer Uniqure has pulled alipogene tiparovovec (sold as Glybera) from store shelves. This was primarily because there was essentially no demand for the drug as opposed to any concerns with safety or effectiveness.


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