Magazine article The Exceptional Parent

Whence Come Treatments for Genetic Disorders?

Magazine article The Exceptional Parent

Whence Come Treatments for Genetic Disorders?

Article excerpt

There are nearly 7,000 known, rare genetic conditions. The men, women and children affected by these conditions not only live with the symptoms of their disease--they also live with the reality that very few genetic conditions have treatments.

Most genetic conditions are rare and are called "orphan diseases." This means that they affect fewer than 200,000 people in the U.S. By comparison, more than 25 million people in the U.S. have heart disease. The therapies developed to treat these rare conditions are called orphan drugs, and there used to be little motivation for drug companies to make orphan drugs. When you can sell a heart disease drug to millions of people, why make a drug you can only sell to a few thousand? The Orphan Drug Act of 1983 provides incentives for companies to develop therapies for rare diseases. Over the past few decades, the Orphan Drug Act has enabled more than 200 new treatments for rare conditions! But there are still thousands of diseases that do not have therapies.

Two big reasons for this are that drug development--for all conditions--takes a LOT of money and a LOT of time. It is difficult to create effective therapies, and it is even more challenging for rare diseases. It takes roughly 18 years and one billion dollars to develop a drug because there is a very high failure rate. About 98% of drugs that begin development never make it to market. Last year, though 600 billion dollars was spent in public and private funding, the Food and Drug Administration (FDA) only approved 21 drugs for use in the U.S.

Another challenge for rare disease drug development is that there aren't that many people with the conditions, which makes it tough to study whether the drugs work. Many of these diseases go undiagnosed, so it is difficult to find enough patients to conduct clinical trials.

With all these barriers, it is hard for companies to justify the enormous investment and the huge risk of failure for treatments that will benefit a relatively small number of people.

It's Not All Bad News

Despite all the challenges, several organizations are dedicated to treatment development for rare diseases.

Genetic Alliance established the Genetic Alliance Registry and BioBank ( to help disease advocacy organizations accelerate research on all diseases, common and rare.

The National Organization for Rare Diseases (NORD) represents individuals and families affected by rare diseases as well as the patient organizations assisting them.

The National Institutes of Health Office of Rare Diseases Research supports a network of rare disease collaboratives to accelerate treatment development. This Office also sponsors more than 100 research consensus meetings on rare diseases every year.

The FDA Office of Orphan Products Development manages a grant program to help drug development for rare conditions. This Office also "designates" orphan drugs--giving "orphan" status to drugs and other products for people with rare diseases--and has a streamlined process to help orphan products through review.

The Orphan Drug Act--Getting Companies to Care

During the late 1970s, few pharmaceutical companies developed drugs for rare diseases. Rare diseases activists, primarily led by NORD, fought to change this, and in 1983 the Orphan Drug Act became law. The Act provides three incentives for companies to work on rare disease therapies:

Seven-year marketing exclusivity to sponsors of approved orphan products. …

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