New gene therapy for Gaucher disease

Gaucher disease is caused by mutations in GBA gene, which deactivate beta-glucocerebrosidase enzyme. Patients suffer from accumulation of molecules normally broken down by the enzyme. Cells with excess of those molecules lead to multiple symptoms associated with various tissues. Treatment based on the restoration of healthy enzyme has been explored by clinicians since 1990 – including gene therapies – but provided slight improvements only and did not lead to approved drugs.

New clinical trial (NCT04145037) aims to restore GBA gene activity by the procedure outside of the body. Participants will receive transplants of genetically modified hematopoietic stem cells. Among two primary outcomes, author of the trial (AvroBio) lists safety and enzyme activity.

The study is already ongoing, with actual start set as May 2019, and will continue until May 2021. Subjects will be followed for the next 15 years after treatment to assess the results.

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