What are Orphan and Rare Diseases?

Rare diseases affect very small populations of individuals. According to the United States Food and Drug Administration (FDA), orphan diseases are those that specifically affect less than 200,000 people within the nation; many of these rare diseases are also genetic. Some of these rare diseases include cystic fibrosis, Huntingon’s disease, Aarskog syndrome, Waardenburg syndrome, and Fabry disease.

During the summer of 2014, more than one hundred million dollars were raised in the fight against a rare disease called amyotrophic lateral sclerosis—or ALS—through a movement called the ALS Ice Bucket Challenge. Participants would dump a bucket of ice water over their friends’ heads, capture the moment on video, educate viewers about ALS, and even urge others to participate in the challenge or donate to the cause. ALS, also commonly referred to as Lou Gehrig’s disease, is a neurodegenerative disease characterized by an eventual loss of muscle control and movement; an estimated 20,000 Americans have ALS at a given time.

According to the Genetic and Rare Diseases (GARD) Information Center in the National Institutes of Health (NIH), approximately twenty-five to thirty million Americans live with rare diseases; they further estimate that there may be up to 7,000 rare diseases in existence. Therefore, while rare diseases individually affect a small portion of the population, all rare diseases cumulatively impact a significant number of Americans.

However, since each rare disease individually affects very few individuals, companies initially had very little incentive to develop drugs to treat these diseases; such drugs would not necessarily provide profits with such small patient populations. In fact, according to GARD, rare diseases were coined “orphan” diseases because drug companies did not want to “adopt” them and provide treatments for them.

In 1983, Congress passed the Orphan Drug Act (ODA) to create financial incentives to facilitate necessary orphan drug development. Some of these incentives included tax credits for research, grant funding, and marketing opportunities. For example, grants such as the Orphan Products Clinical Trials Grants Program help provide funding towards clinical research “that tests the safety and efficacy of drugs, biologics, medical devices, and medical foods in rare diseases or conditions.” The FDA even currently has an entire office dedicated to overseeing products related to rare diseases; the mission of the FDA’s Office of Orphan Products Development is to “advance the evaluation and development of products that demonstrate promise for the diagnosis and/or treatment of rare diseases or conditions.”

According to the FDA, in the decade preceding the ODA, less than ten treatments for orphan diseases were approved; in the years since it passed, however, hundreds of orphan drugs have since been developed. Approved orphan drugs to treat ALS, for instance, include Edaravone and Riluzole. While research into treatments for orphan and rare diseases is ongoing, the advancements performed over the years are encouraging for future progress.