Confronting Barriers to Rare Disease Treatment

Rare disease research needs more empathy and respect for patient challenges. The extraordinary potential for rare research advances is often stymied by issues of access and regulation, says Ultragenyx President and CEO Emil Kakkis.
by Rachel Jones, National Press Foundation

As a researcher in pediatrics and genetics, Dr. Emil Kakkis worked on a project to develop a treatment for a rare disease known as mucopolysaccharidosis (MPS). His interactions with the desperate parents of a patient named Ryan, and the hurdles that frustrated researchers, inspired the book “Saving Ryan: A 30-Year Journey into Saving the Life of a Child.” As CEO of the drug development company Ultragenyx, Kakkis explained the challenges of producing viable treatments for rare disease.

Biotech companies must develop better strategies for working with international governments. Western countries are paying high prices to produce drugs, but the cost of negotiating with countries to produce or distribute those treatments is prohibitive, Kakkis said. He proposes a new global strategy in which treatments are distributed to countries for a lump sum at a moderated price point, and where doses don’t wind up staying in developed countries with low rates of usage. This strategy, referred to as the “Netflix model,” would allow countries’ health programs to pay one fee to provide treatment for anyone in the country who needs the drug.

The rules around clinical trials need a revamp. In the U.S., researchers are only allowed to provide limited support to participants, and this creates significant barriers to inclusivity in clinical trials, Kakkis said. Participation by people of color might be greatly improved if people could be reimbursed for taking time off to participate, if they could bring their children with them, or if they were reimbursed for travel expenses, Kakkis said. “The truth is, the way the expense reimbursement thing is done right now, it means only people that are relatively wealthy can be in trial,” Kakkis said.

Fear of bad outcomes can block rare disease treatment advances. Kakkis acknowledged the intense pressure drug regulators can experience. “I think the challenge is their feeling of how imminent or how much their decisions will be blamed with the death of the person.” Or because some rare diseases don’t cause rapid decline, they may feel they don’t have to make quick decisions. And insurers also make seemingly random decisions about which rare diseases to cover and which may be too risky.

There are rare and ultra-rare diseases. With the introduction of the Orphan Drug Act in 1983, rare diseases were defined as those affecting 200,000 patients or fewer in the United States. Ultra-rare diseases affect fewer than 5,000 patients in the U.S. An analysis done by the EveryLife Foundation for Rare Diseases concluded that about 85% of the rare diseases listed in Orphanet occur in fewer than 5,000 U.S. patients, which makes the bulk of cases ultra-rare. “With the advent of precision medicine and even more finely dividing disease states into particular genetic types, we very well could have a lot of the more common diseases ultimately be considered rare,” Kakkis said.

Rare disease drugs should not be distributed by lottery. Kakkis noted a drug called Zolgensma, a gene therapy for spinal muscular atrophy, costs about $1.8 million per dose. Drug companies sometimes provide free treatment for patients through compassionate use programs, but they also initiate lotteries to distribute these free treatments due to limited supply. Kakkis believes that strategy needs to change. “While it may be harder to provide access to everyone in the world, they should be doing more than just supporting developing countries and allowing a lottery as a way to treat really sick babies,” Kakkis said.

Speaker: Emil Kakkis, Founder, President and CEO, Ultragenyx; Author of “Saving Ryan: A 30-year Journey into Saving the Life of a Child”

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