American College Of Surgeons - Inspiring Quality: Highest Standards, Better Outcomes

Orphan Drugs for Rare Diseases


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This week's guests:
Segment 1: Orphan drugs for rare diseases, Part 1 - The Fed Opens Up (1:21 - 17:34)
Guest: Dr. Timothy Cote, Director of FDA's Office of Orphan Products and Development

It's frightening enough to be diagnosed with a disease - or to have a child or parent diagnosed with a disease - that requires treatment. Worse still is to be diagnosed with a so-called "orphan disease" - rare disorders that have few treatment options, often due to lack of money for drug research. Many of these orphan diseases have no approved treatment at all.

By definition, orphan diseases affect less than 200,000 people in the U.S. They're rare; but there are a lot of them. Thirty million Americans suffer from some of the 7,000 rare conditions that have been identified by the Food and Drug Administration (FDA). Familiar disorders like cystic fibrosis, Lou Gehrig's disease, and Tourette's syndrome are considered rare diseases and affect tens of thousands of people; others are much more obscure and can affect only a handful of people.

The problem that almost all patients with rare disorders face is that drug companies have historically shown very little interest in developing drugs for orphan diseases. The sad fact is that there's just no money in it. Developing new drugs is expensive and time consuming. And with no promise of a return on the investment, drug companies focus their attention elsewhere.

Since the passage of the Orphan Drug Act in 1983, the FDA has offered incentives to drug companies - and to researchers - to develop treatments for these rare diseases. Drugs that get the "orphan drug" designation come with a 50-percent tax credit on any clinical trials that need to be conducted; the FDA waives its drug application fees - fees which can run up to a million and a half dollars; and once it gets FDA approval, the company gets exclusive drug marketing rights for seven years.

But in the nearly 30 years since the Orphan Drug Act was passed, the FDA has approved less than 400 drugs for treating rare diseases. A drop in the bucket for the millions of Americans suffering from thousands of disorders.

Among those who are dissatisfied with the FDA's track record in getting therapies for those with rare diseases is the FDA's current director of Orphan Products and Development, Dr. Tim Cote. He wants to double the number of orphan drug designations that his office approves in the next decade and a half.

Segment 2: Orphan drugs for rare diseases, Part 2 - A Parent's Battle (17:43 - 27:30)
Guest: Dr. Neera Gulati-Manning, family practitioner and mother of 13-year-old with Duchennes Muscular Dystrophy

While the FDA is putting more muscle behind its effort to find therapies and cures for rare diseases, it can't help to match the determination of patients and families who live with the diseases every day.

Dr. Neera Gulati-Manning is a family practitioner in the Buffalo area in upstate New York. Her 13-year-old son Suneel suffers from a lethal form of muscular dystrophy called Duchenne muscular dystrophy. Duchenne, which most often afflicts boys, attacks the muscles, gradually breaking them down. Most kids diagnosed with Duchenne don't survive past their early 20s.

With friends and family, Dr. Gulati-Manning started Suneel's Light Foundation, dedicated to finding a cure for Duchennes. They recently awarded an $80,000 grant to Australian genetic researcher Dr. Steve Wilton, who's developing a therapy to treat the disease. Dr. Manning also hopes the FDA will give orphan drug designation to the research, which will help attract more money to research efforts.

For more information on rare diseases and orphan drugs, visit the National Organization of Rare Disorders (NORD), or the FDA's Office of Orphan Products and Development.