Bills would boost research funding for rare disorders through NIH and FDA

Physicians envision a future with better treatment options for people with these "orphan" diseases.

By Michael J. Bernstein, AMNews correspondent. Oct. 21, 2002. Additional information

Washington -- Legislation poised to pass in Congress could bring new and much-needed energy to the search for treatment for rare diseases, according to physicians.

Two bills, which already have passed the House, would double funding for the Food and Drug Administration's orphan products research grant program and formally establish the National Institutes of Health Office of Rare Diseases.

"Doctors like myself and the patients we serve have been waiting for something like this for a very long time," said Richard Barohn, MD, chair of the Dept. of Neurology at the University of Kansas Medical Center in Kansas City. "Hopefully, this legislation will encourage more doctors to devote a career to finding an answer to a cure for these rare diseases. We desperately need more money to attract more young investigators into the field."

One of the House bills would authorize $25 million a year for four years for the FDA orphan drug research program, which currently has annual funding of $12 million.

The other bill would authorize $20 million a year for the NIH rare disease office for the same four years.

The NIH bill also would create centers of excellence designed to offer training grounds where new investigators could conduct more organized research into the causes and treatment of rare diseases, commonly called orphan diseases. The centers, to be located in existing academic research facilities and hospitals, also would carry out clinical studies and accept referrals from doctors who need help with diagnoses or treatments. Funding would come through grants offered by the NIH rare diseases office.

Since 1982, 200 drugs and biological products have been developed to treat rare diseases.

These centers of excellence would help doctors provide better care in their communities, said Hugo Moser, MD, professor of neurology and pediatrics at Baltimore's Johns Hopkins University Medical Center.

Dr. Moser predicted that when more research is funded, "we will find that these rare diseases are not as rare as we think." Additional study of rare diseases would be helpful in developing improved diagnosis and treatment of more common disorders, he added.

At press time, the Senate was expected to approve a bill that includes language identical to both House measures. President Bush is expected to sign the legislation.

A history of small budgets

Physicians and advocates for people with rare diseases say the new funding in the bills couldn't come soon enough.

When the FDA set up its Office of Orphan Products Development in 1982, the budget was just $500,000. That figure and the budgets for the next 20 years have been woefully inadequate, according to the National Organization for Rare Disorders and many doctors treating these patients.

Through the years, supporters of the bills said, patients with some rare diseases have suffered because there just hasn't been enough research, funding and emphasis on these little-known disorders.

25 million people in the U.S. have one of 6,000 rare diseases.

The legislation notes that the FDA has been able to support only small clinical trials through its orphan products research grants.

These grants have led to partnerships between government and industry and the development of 23 drugs and four medical devices for rare diseases and disorders. Unfortunately, the bill language says, "the appropriations in fiscal year 2001 for such grants were less than in fiscal year 1995."

Since the FDA orphan products office was created in 1982, more than 200 drugs and biological products have been developed to treat rare diseases. Fewer than 10 were developed before that. The Orphan Drug Act created financial incentives for research and production of drugs for rare diseases.

Backers of increased funding for this research said it's remarkable that many drugs and devices have been produced with so little research money. They predict that the doubling of funding for the FDA orphan drugs effort will have the potential to bring about significant improvements in treatment.

"It's taken a lot of letters to Congress to convince members what it's like to live without hope," said Abbey Meyers, president of NORD, which has provided services and lobbied for patients with uncommon diseases since the 1970s. "It's taken 20 years and a lot of educating. We're delighted to see this bipartisan, unanimous support in Congress."

Historically, Congress has responded to the most powerful groups that lobby the most, Meyers said. The problem has been that patients with a rare disease, by definition, don't have the numbers to create the large advocacy groups that those with breast cancer or prostate cancer have, she said.

Meyers added that the $25 million Congress is poised to authorize, though welcome, represents only $1 for each of the 25 million people in the nation who have one or more of a total of 6,000 rare diseases.

But many physicians and patient advocacy groups see reason for hope.

Rup Tandan, MD, who treats patients with rare neurological disorders, said the increased research funds would lead to many more drugs being screened more quickly and efficiently by the FDA, the NIH and other agencies.

"There will be more clinical trials, and we will get more answers about treating and diagnosing patients with rare diseases," added Dr. Tandan, professor and vice chair of neurology at University of Vermont College of Medicine in Burlington.

The Tourette Syndrome Assn. also applauded the increased funding for the FDA orphan drug program.

"There's probably no other group of patients more underserved -- in regard to both the development of treatments and research -- than those with rare diseases," said Sue Levi-Pearl, TSA's vice president for medical and scientific programs.

A major problem to date has been that there has been so little funding to support preliminary rare disease research by the federal government that drug companies have resisted getting involved, researchers said. Because the number of patients with rare diseases is small, the companies are reluctant to spend the large sums needed to develop drugs if no scientific groundwork has been laid.

Now, with added funding and the potential for added research by NIH and other agencies, drug firms may be more receptive to investing time and money, advocates said.

ADDITIONAL INFORMATION:

Orphan aid

Two House bills aim to encourage research of rare diseases. A companion Senate measure contains the same language. The legislation would:

Authorize $25 million a year in Food and Drug Administration grants and contracts for research to enhance the development of diagnosis and treatment of rare diseases. The funding would continue through fiscal 2006.
Make the National Institutes of Health Office of Rare Diseases permanent. For several years the office has existed without being codified.
Authorize the NIH to create and operate centers of excellence for rare diseases with a budget of $20 million for each of fiscal years 2003 through 2006. Funding would cover clinical training, patient care costs, clinical research studies, demonstration programs and continuing medical education.

Weblink

FDA Office of Orphan Products Development page (http://www.fda.gov/orphan/)

NIH Office of Rare Diseases page (http://rarediseases.info.nih.gov/)

GOVERNMENT & MEDICINE