Alpha-1 Antitrypsin Deficiency

Alpha 1 Antitrypsin Deficiency (Alpha 1) is an inherited genetic defect that causes severe loss of lung function and is caused by complete or partial deficiency of the alpha-1 antitrypsin protein. Alpha-1 is one of the most common serious hereditary disorders in the world, with an estimated patient population of 200,000 in the US and Europe, and can result in life-threatening liver disease in children and adults or in lung disease in adults.

Alpha-1 augmentation therapy (treatment with weekly infusions of alpha-1 antitrypsin protein, purified from plasma obtained from human donors) has been available since 1987. There are three main drawbacks to this augmentation therapy: the requirement for IV infusion every one to two weeks, the high cost, typically $100,000 per year, and the limited supply causing rationing. Supplies remain low because of the limited number of human plasma donors.

AGTC is developing a gene therapy product to treat Alpha-1. An investigator-sponsored Phase 1 Clinical Trial of an earlier (lower potency) version of the product was conducted at the University of Florida. The product was given to 12 patients and was well tolerated with no adverse events related to the treatment.  A second, AGTC-sponsored Phase 1 Trial with a higher potency version of the product is in progress.

Leber Congenital Amaurosis

Visit patient sites: Foundation Fighting Blindness, The Foundation for Retinal Research

Leber Congenital Amaurosis (LCA) is a rare inherited retinal degenerative disease characterized by severe loss of vision early in life. There are at least nine known genes that can cause LCA. There is no treatment available for LCA.

Under sponsorship from the National Eye Institute, pre-clinical studies of a gene therapy product for one genetic form of LCA have been performed in collaboration between The University of Florida, The University of Pennsylvania, and Cornell University, and a Phase I human clinical trial has recently begun. If the product continues to show safety and potential efficacy, AGTC will help move the product into Phase 2/3 human clinical testing.

Patients are directed to the Foundation Fighting Blindness website (www.blindness.org) for more information.