Report: HCC Case Not Linked to Hemophilia Gene Therapy Trial

According to a story from the National Hemophilia Foundation, the drug company uniQure has provided an update in regards to a case of hepatocellular carcinoma (HCC) that emerged in a patient participating in its phase 3 clinical trial. This clinical trial was evaluating the investigational gene therapy etranacogene dezaparvovec as a treatment for people living with hemophilia B, a rare bleeding disorder. The report concluded that the diagnosis was not the result of treatment with the gene therapy.

About Hemophilia

Hemophilia is a genetic disorder which affects the ability of the blood to form clots, a process that is vital for stopping bleeding after a wound is sustained. Symptoms include bleeding for a long time after an injury, risk of bleeding in the brain and joints, and easy bruising. Bleeding in the joints can cause permanent damage and brain bleeding can lead to headaches, decreased consciousness, and seizures. To learn more about hemophilia, click here.

About Hepatocellular Carcinoma

Hepatocellular carcinoma is a type of liver cancer. The cancer is associated with common symptoms of liver dysfunction and damage, such as jaundice, fatigue, abdominal swelling, nausea and vomiting, bruising easily, abdominal pain, loss of appetite, and weight loss. Survival rates are poor; cancer that cannot be removed with surgery is usually lethal within a year. To learn more about hepatocellular carcinoma, click here.

In December of last year the company had announced that the US Food and Drug Administration (FDA) had placed a clinical hold on the trial following the reported preliminary identification of hepatocellular carcinoma in one of the trial participants that had been dosed with etranacogene dezaparvovec. Such a diagnosis, had it been somehow linked to the treatment, would constitute a major adverse event.

If the gene therapy had somehow triggered the onset of hepatocellular carcinoma, it would have likely signaled the end of the therapy’s development. Thankfully uniQure was able to confidently conclude that the diagnosis was unrelated. Integration of the therapy’s AAV vector in the patient’s tissue was very rare. The patient also had several risk factors that increased their risk of developing liver cancer. These included a history of both hepatitis B and hepatitis C, old age, and a history of nonalcoholic fatty liver disease (NAFLD). A further genetic analysis of the cancer tumor and the surrounding tissue confirmed that the liver was in a precancerous state, making it highly unlikely that treatment with etranacogene dezaparvovec could have caused the cancer.

With this important update, the FDA will likely lift the trial’s clinical hold before long.

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