On July 20, 2012, a committee of the European Medicines Agency recommended for regulatory approval the first gene therapy using an adeno-associated virus vector to treat lipoprotein lipase deficiency (LPLD), a very rare genetic disease. With a normal diet, patients lacking sufficient levels of lipoprotein lipase have abnormally high serum triglycerides and high levels of very low-density lipoprotein (VLDL), resulting in acute severe pancreatitis and chronic conditions associated with high levels of VLDL, such as cardiovascular diseases. 

A team from the National Heart, Lung, and Blood Institute (NHLBI) discovered a means for producing recombinant adeno-associated virus (rAAV) in cultured insect cells. Based on these findings, NHLBI developed a robust and scalable process for producing large quantities of rAAV. Dutch biotechnology company uniQure adapted these methods to produce the therapeutic vector Glybera® for the treatment of LPLD. Glybera® expresses lipoprotein lipase in the patient’s own tissue, restoring the body’s ability to break down fat particles in the blood, thereby substantially reducing the incidence of pancreatitis. 

The National Institutes of Health (NIH) Office of Technology Transfer executed a nonexclusive license to the rAAV baculoviral manufacturing technology with uniQure. The license provides uniQure with an added dimension to its manufacturing platform. Under a separate exclusive license executed in 2011, the company is also working on other gene therapy products using AAV5 vectors technology invented by Drs. Robert Kotin and John Chiorini of NHLBI. 

The combined effort of NIH and uniQure has the potential to greatly increase the therapeutic reach of gene therapies to benefit large patient groups. It would also enable the treatment of diseases that require the systemic (as opposed to local) expression of therapeutic genes in patients’ tissues. 

Awardees

NIH - National Heart, Lung and Blood Institute

• Dr. Robert Kotin
• Dr. John Chiorini
• Dr. Vincent Kolesnitchenko
• Dr. Alan Deutch

NIH - Office of Technology Transfer

• Dr. Betty B. Tong
• Jeffrey Walenta
• Mojdeh Bahar
• Richard Rodriguez
• Dr. Mark Rohrbaugh