New FDA Orphan Drugs: Mifepristone, 1-Deoxynojirimycin Hydrochloride, Cetuximab

Jill Taylor

July 20, 2007

July 20, 2007 — The US Food and Drug Administration (FDA) has granted orphan drug designation for mifepristone for the treatment of Cushing's syndrome, 1-deoxynojirimycin hydrochloride for the treatment of Pompe disease, and cetuximab for the treatment of pancreatic cancer.

Orphan Drug Mifepristone ( Corlux) for Cushing's Syndrome

On July 5, the FDA granted orphan drug designation to mifepristone ( Corlux, Corcept Therapeutics Inc) for the treatment of Cushing's syndrome, a condition that occurs when the body is exposed to high levels of the hormone cortisol or to cortisol-like medications for a prolonged period of time.

Hallmark symptoms of Cushing's syndrome include weight gain, fatigue, muscle weakness, slow healing of skin lesions, and depression or irritability. In patients who do not receive treatment, Cushing's syndrome may also lead to complications such as high blood pressure, bone loss, or diabetes.

Mifepristone is an antagonist of 1 of the body's 2 cortisol receptors and its progesterone receptor. It is currently approved for the medical termination of intrauterine pregnancy through 49 days of pregnancy. Evidence from case studies and clinical trials suggests that mifepristone may also be effective in treating psychotic depression and mitigating weight gain associated with the antipsychotic drug olanzapine, and it has been reported to ameliorate psychosis and depression in patients with Cushing's syndrome.

Orphan Drug 1-Deoxynojirimycin Hydrochloride for Pompe Disease

On June 18, the FDA granted orphan drug designation to 1-deoxynojirimycin hydrochloride (Amicus Therapeutics, Inc) for the treatment of Pompe disease, an inherited lysosomal storage disorder caused by a mutation that alters the structure and stability of α-glucosidase (Gaa), an enzyme responsible for the breakdown of glycogen.

In patients with Pompe disease, glycogen accumulates in the lysosomes and results in progressive muscle weakness throughout the body, most seriously affecting tissues such as the heart and skeletal muscles. Pompe disease can occur in at any age and affects an estimated 5000 to 10,000 patients worldwide.

Amicus Therapeutics specializes in the development of pharmacological chaperones — small-molecule drugs that selectively bind to a target protein, thus increasing the protein's stability and allowing it to be trafficked to the appropriate location in the cell.

Orphan Drug Cetuximab ( Erbitux) for Pancreatic Cancer

On June 15, the FDA granted orphan drug designation to cetuximab ( Erbitux, ImClone Systems Inc) for the treatment of pancreatic cancer, a leading cause of cancer death in the United States.

At present, there is no effective test available for the early detection of pancreatic cancer, and patients are often not diagnosed until they become symptomatic during later stages, contributing to a high mortality rate for the disease. According to estimates reported by Johns Hopkins, 32,000 Americans will be diagnosed with pancreatic cancer this year, and approximately that number of deaths will occur as a result of the disease.

Cetuximab is a recombinant, human/mouse chimeric monoclonal antibody that binds to the extracellular domain of the human epidermal growth factor receptor on both normal and tumor cells. It is currently approved for the treatment of head and neck cancer, as well as colon cancer.

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