AVR-RD-02 is a gene therapy candidate being developed by Avrobio for the treatment of Gaucher disease.

Avrobio’s application to conduct Phase 1/2 clinical trials of AVR-RD-02 was cleared in October 2018 by Health Canada, which permitted the company to start the studies.

How AVR-RD-02 works

Gaucher disease is a metabolic condition caused by mutations in the GBA gene that carries the instructions to make beta-glucocerebrosidase, an enzyme required for the breakdown of the fat molecule glucocerebroside. The mutations cause insufficient levels of beta-glucocerebrosidase to be made, resulting in the build-up of glucocerebroside in various organs and tissues, which lead to the symptoms of Gaucher disease.

AVR-RD-02 is designed to deliver a fully functional copy of the GBA gene into the patient’s body to restore the proper synthesis and functioning of the beta-glucocerebrosidase enzyme. Hematopoietic stem cells are first collected from the patient and modified in the laboratory to carry a normal copy of the GBA gene. A genetically altered virus incapable of causing disease is used to deliver the normal GBA gene to the stem cells. The modified stem cells carrying the healthy GBA gene are then reintroduced into the patient’s body. The goal is to make the body capable of producing sufficient amounts of beta-glucocerebrosidase, thereby reversing the effects of the deficiency of this enzyme in Gaucher patients.

AVR-RD-02 in clinical trials

Researchers used a mouse model of Gaucher disease to assess the efficacy of AVR-RD-02 in preventing and reversing the clinical symptoms of the disease. The mice used in the study lacked the GBA gene and mimicked Gaucher disease seen in human patients. The study found high levels of beta-glucocerebrosidase in mice treated with AVR-RD-02, which helped in the clearance of glucocerebroside from the spleen and reversing its swelling. Steady levels of the enzyme were also detected in other organs such as the liver and bone marrow, which also correlated with a reduction in glucocerebroside levels at these sites. The treatment prevented the progression of Gaucher disease, the team noted.

Avrobio is planning a Phase 1/2 clinical study testing AVR-RD-02 for the treatment of type 1 Gaucher disease. The study will assess the safety and efficacy of this treatment in eight to 16 patients with type 1 Gaucher disease, ages 16 to 35. Beta-glucocerebrosidase levels and activity, spleen and liver volume, and bone mineral density will be monitored to assess the efficacy of the treatment. The team will also monitor the impact of the treatment on the patients’ quality of life.


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