Senate committee examines neglected pediatric diseases

Of the 7,000 rare diseases affecting 25 million Americans, only 3% of those conditions have treatments approved by the Food and Drug Administration (FDA), testified Sen Tom Harkin, chairman of the Health, Education, Labor, and Pensions Committee, at a hearing that examined rare and neglected pediatric diseases. In comparison with the millions of dollars that go into research for major diseases, he said, there has been less success in mobilizing the research community to come up with therapies and cures for rare diseases.

Daniel Frattarelli, MD, FAAP, testifying for the American Academy of Pediatrics, told the committee at the hearing in July that "because most rare diseases are genetic, they are present at birth, through childhood, and into adulthood."

Asked about the idea that patients with rare diseases may be willing to accept more risk in clinical trials than other patients, FDA'S chief scientist, Jesse Goodman, MD, MPH, said, "With respect to clinical trials in general, we do look at and we must look at this in a risk-benefit manner. Obviously, the equation of what could go on . . . really depends on what are the available treatment options for that individual, what we know about the product."

In the meantime, Sen Sherrod Brown, who is a member of the subcommittee, and Sen Sam Brownback have said they will try to pass legislation to give special "priority review vouchers" at FDA to companies that work on and get approval for treatment for rare childhood diseases.

The senators helped to pass such a program for neglected tropical diseases, which gets the companies expedited review for a future product.

Frattarelli told the subcommittee, "Lower financial incentives and greater clinical trials obstacles have resulted in fewer drugs being developed specifically for children. . . . These obstacles are magnified for children of rare diseases."

He suggested the possibility of creating a central repository for data on safety and efficacy of treatments for rare conditions, because physicians must frequently use off-label drugs for children because drugs have not been approved for them.

"The outcomes of these 'N of 1' trials too often stay with the treating physicians," Frattarelli said.

Goodman also told the committee that before the passage of BPCA and PREA, 80% of products approved had no information about pediatric uses.

"Today, we still have a lot more work to do, but pediatric information as a result is routinely included in the product labeling," Goodman said.

Goodman also pointed out that in February, FDA created the position of associate director for rare diseases in its drug center to promote best practices and innovation.

Goodman stressed to the committee that the agency is trying to be flexible with efforts on rare diseases. "We have approved quite a number of products based on very small clinical trials-10, 20 people-and often on one trial," he said.

Goodman noted that there are "huge gaps" in drug development between the academic and basic science enterprise that's done in its "distinct culture" and "the product evaluation and development and manufacturing enterprise, where industry and FDA are major players." He indicated that FDA and the National Institutes of Health are working on this issue.

In other testimony, Diane Edquist Dorman, vice president of the National Organization of Rare Disorders, told the committee that as healthcare costs go up, both public and private insurers are increasingly denying coverage for off-label therapies. Most people with rare diseases, she said, are treated with off-label products in the absence of approved products.