In celebration of the 30th anniversary of the passage of the Orphan Drug Act, the FDA is highlighting the work of 30 heroes who have made clinical, research, advocacy and regulatory contributions over the last three decades.
The FDA's designation recognizes efforts that raise awareness with the public about rare diseases, the challenges encountered by those affected, the importance of research to develop diagnostics and treatments and the impact of these diseases on patients' lives.
According to the FDA, the Orphan Drug Act
provided the first meaningful incentives to sponsors to develop needed medical products for the estimated 25 million Americans with rare diseases.
Boyer, who is a member of the UA's BIO5 Institute
, has focused her scientific career on venomous bites and stings, which are often unrecognized public health issues. She began by developing public education programs that offer poison and toxin emergency treatment advice. In 2004 and 2005, with an FDA Orphan Product grant, she led a team that conducted clinical studies leading to the marketing approval of the first scorpion antivenom – representing one of more than 40 products developed through orphan grant-sponsored research.
"The University of Arizona is truly one of the leaders in the study of orphan drugs among academic centers," Boyer said. "Two out of four antivenoms currently on the U.S. market were developed at the UA, supported by FDA orphan grants. I am celebrating this award on behalf of all physician scientists here that are involved in this type of work. The UA has done more than its share."
In the United States, any disease affecting fewer than 200,000 people annually is considered rare, and there are nearly 7,000 rare diseases affecting nearly 30 million Americans, or about one in 10. Scorpion stings and snakebites, although well known in Arizona, are less common in the rest of the U.S. and are considered orphan diseases by the FDA.
"If you added up every sting from a scorpion, every bite from a spider, a snake or a Gila monster – in short, every terrestrial creature – the total of all venom injuries would still qualify as a rare or orphan disease," Boyer said.
According to Boyer, scorpions sting between 12,000 and 15,000 people per year in the U.S., but only a few hundred of those are life-threatening, mostly to children under the age of 5. Unlike stings from wasps, bees and kissing bugs, which are notorious for causing allergic reactions, there is no particular connection between allergies and scorpion venom.
"An allergic reaction to a sting occurs when the body's immune system overshoots in its response to the foreign substance," Boyer explained. "With venom, it's not a function of the human body's response, but the creature makes toxins that are delivered in a sufficient dose to do harm. Scorpions, for example, have a nerve poison that can be life threatening to a small child."
The VIPER Institute, with 150 faculty members in Arizona and around the world, uses clues from the genealogy of venomous animals to guide scientific discovery toward practical applications, including clinical trials of a variety of antivenoms for snake, scorpion and spider venom injury.
Boyer has been the principal investigator in 10 clinical studies involving new antivenom technologies, with funding from the FDA's Office of Orphan Products Development, the Arizona Biomedical Research Commission, the Arizona Department of Health Services and private companies. She started her career in antivenom research during her clinical fellowship when she worked on an FDA-funded project that led to the development of CroFab, the standard antivenom given to victims of rattlesnake bites.
Later, Boyer received a grant for the study of a scorpion antivenom, which resulted in the FDA approval of Anascorp, a scorpion antivenom developed in Mexico and tested in clinical trials conducted through the UA in collaboration
with the Institute of Biotechnology of the National Autonomous University of Mexico.
Arizona's bark scorpion and its Mexican "cousins" are the only North American scorpions with venom that can cause significant nerve poisoning in humans. Scorpions are very common throughout Mexico, and antivenom products have been manufactured and used there for decades. Each year, about 8,000 scorpion stings occur in Arizona, and about 200 result in serious nerve poisoning and require medical treatment. Nearly all of these patients are young children, whose breathing may be impaired severely by the effects of the scorpion venom on the nerves controlling the respiratory system.
Boyer has recently been awarded another orphan grant from the FDA to study a possible treatment for the estimated 75 coral snake bites that occur in the U.S. each year.
The list of FDA Rare Disease Heroes includes a wide range of recipients who were instrumental in the passing of the Orphan Disease Act, from Jack Klugman, star of the 1980s television series, "Quincy," which successfully raised public awareness about rare disease issues by highlighting them in two episodes, to families affected by rare diseases, activists, professionals in media, government, private care and research.
The FDA marks the 30th anniversary of the passage of the ODA with recognition and events throughout 2013.