New FDA Orphan Drugs: AMT 011, Axitinib, Gene Therapy for Juvenile Retinoschisis

Jill Taylor

June 09, 2007

June 8, 2007 — The US Food and Drug Administration (FDA) has granted orphan drug designation for AMT 011 for the treatment of lipoprotein lipase deficiency, axitinib for the treatment of pancreatic cancer, and adeno-associated viral vector expressing human retinoschisin-1 gene for the treatment of X-linked juvenile retinoschisis.

Orphan Drug AMT 011 for Lipoprotein Lipase Deficiency

On May 21, the FDA granted orphan drug designation to adeno-associated viral (AAV) vector expressing the human lipoprotein lipase protein (AMT 011, Amsterdam Molecular Therapeutics BV) for the treatment of lipoprotein lipase (LPL) deficiency.

LPL deficiency is an inherited condition caused by a deficiency of either lipoprotein lipase or apolipoprotein C-II, a lipase-activating protein. The lack of lipase activities prevents the body from removing chylomicrons and triglycerides from the blood, which accumulate and cause symptoms such as abdominal pain, eruptive xanthoma (skin lesions), and hepatosplenomegaly (enlargement of the liver and spleen).

To date, more than 220 mutations of the LPL gene that are associated with disease have been identified. AAV vectors are an approach to gene therapy in which a human-engineered virus is used to deliver therapeutic genes to cells.

Orphan Drug Axitinib for Pancreatic Cancer

On May 31, the FDA granted orphan drug designation to axitinib (Pfizer, Inc) for the treatment of pancreatic cancer, a disease expected to cause death in 33,370 Americans this year.

Although prognosis is improved with early diagnosis of the disease, pancreatic cancer is difficult to detect for a variety of reasons, including the lack of noticeable signs and symptoms until later stages when the cancer may become inoperable or metastasizes.

Axitinib works by selectively inhibiting vascular endothelial growth factor (VEGFR) 1, 2, and 3, which is thought in turn to inhibit tumor angiogenesis. This starves the tumor of a new blood supply and induces tumor regression.

Orphan Drug Adeno-Associated Viral Vector Expressing Human Retinoschisin -1 Gene

On May 21, the FDA granted orphan drug designation to adeno-associated viral (AAV) vector expressing human retinoschisin-1 gene (Applied Genetic Technologies Corp) for the treatment of X-linked juvenile retinoschisis.

X-linked juvenile retinoschisis, an inherited disease caused by mutation of the retinoschisin-1 (RS1) gene, is a common cause of macular dystrophy (deterioration of the macula, the part of the retina responsible for detailed vision) for which there is no medical or surgical treatment. The condition occurs in boys, with most patients presenting with progressive visual impairment between age 5 and 10 years.

AAV vectors are an approach to gene therapy in which a human-engineered virus is used to deliver therapeutic genes to cells. In a study of mice missing the gene for RS1, the restoration of RS1 by a viral vector resulted in a morphological recovery of the retina and functional recovery (measured by electroretinography).

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