Thalassemia

Thalassemia major and sickle cell disease are caused by inheritance of defects involving the molecular structure or the production of hemoglobin, the protein in red blood cells that carries oxygen from the lungs to the tissues of the body. In Thalassemia major, the genetic defect causes reduced production of normal hemoglobin and insufficient red blood cells to sustain normal metabolism. Disease symptoms usually begin in early childhood and tend to worsen with increasing age, often resulting in organ failure and premature death. Patients typically require repeated red blood cell transfusions to lessen effects of their disease, which over time contribute to further adverse side effects. Lack of beta-globin causes fatal anemia. Patients must wear an uncomfortable pump for iron removal for 12 hours per day.

Allogeneic bone marrow transplantation from HLA-matched donors is the only known cure for Thalassemia. However, only 20% of patients have such matched donors, and those that do must be on life-long immunosuppression and risk graft vs. host disease. In current Phase I/II clinical trials, this therapy introduces a fully-functional human hemoglobin gene under the control of the hemoglobin-promoter into the patient's own hematopoietic stem cells in the bone marrow. By adding a single transduction step to the routine practice of bone-marrow transplantation, this approach may extend the benefit of bone-marrow transplantation to the other 80% of patients who do not have matched donors.

Sickle Cell and Thalassemia Gene Therapy

GENETIX is developing gene therapies that will deliver corrective forms of the hemoglobin gene into the bone marrow stem cells of patients with thalassemia and sickle cell anemia — the most common inherited human diseases, afflicting millions of patients worldwide. Based on precedent-setting pre-clinical data published by GENETIX researchers in Science, in which a gene therapy resulted for the first time in complete cures of two animal models of sickle cell disease. The gene therapy employs the company’s gene delivery system to insert the patented corrective hemoglobin gene into the bone marrow stem cells of a patient. Severe forms of sickle cell disease and beta-thalassemia involve an estimated 200,000 patients in North America and Europe, plus several million in other regions of the world. Developed world markets for this therapy could represent as much as $1 billion per year in revenues.

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Ocular Gene Therapy

GENETIX is also utilizing its gene delivery platform for the development of direct in vivo gene therapies to correct chronic degenerative disorders. The Company's products can be used to treat a variety of chronic, degenerative diseases of the eye by targeting the retinal pigmented epithelial cells for therapeutic gene transfer. These diseases result in blindness and include the childhood diseases known as Stargardt's Disease and Usher’s Syndrome. The Company is also developing a treatment for the very common adult form of the “wet type” of macular degeneration caused by an overgrowth of blood vessels in the back of the eye. Macular degeneration afflicts millions of patients in the US and Europe, thus representing potential multiple billion-dollar annual revenue markets for gene therapies.

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