Progenika, specialised in personalised medicine, has obtained the CE marking for LPLchip® authorising its commercialisation in Europe. This new tool identifies the genetic causes for lipoprotein lipase deficiency (LPLD), a disease characterised by an increase in triglycerides, resulting, in the worst cases, in a recurrent acute pancreatitis.

Due to the progressive nature of this disease, early diagnosis is crucial to offer the patients optimal clinical care. However, nowadays, most patients suffering from this disease experience a delay in its diagnosis. Consequently, Progenika has developed LPLchip®, a precise, quick and cost-effective test that detects over 120 mutations of the LPL gene causing LPLD.

Currently there is no approved treatment for LPLD and the only treatment offered to patients is a strict low-fat diet. However, this does not eliminate the risk of having pancreatitis.

A new therapy named Alipogene Tiparvovec, developed by Amsterdam Molecular Therapeutics (AMT), seeks to compensate the genetic defects causing LPLD. This treatment has been clinically tested in patients in the Netherlands and Canada. The data shows that this therapy is safe, it is well tolerated by patients and, in summary, it has shown positive results: the concentration of triglycerides on an empty stomach was reduced in most of the patients in 3 to 12 weeks after administrating the drug. Moreover, the risk of new episodes of pancreatitis was reduced by 70%.

LPLchip enables detection of patients who could benefit from LPLD gene therapy. This test, with advanced DNAchip technology, in which Progenika is a pioneer, offers a quick and trustworthy diagnosis. LPLchip analyses only require a blood or saliva sample.

Progenika has joined forces with AMT, leading biotech company in gene therapy and, given the promising results obtained in the clinical trials for LPLD gene therapy both companies strive to commercialise gene therapy and LPLchip on a worldwide scale. Thus, AMT has filed for authorisation to commercialise Alipogene Tiparvovec at the European Medicines Agency, in order to make this product available for patients. The goal for this treatment is to reach USA and Canada too.