Rare Diseases : Research, Patient Support Groups

by Food and Drug Administration (FDA)

(Page 3 of 3)

Medical devices are not eligible for orphan designation. However, in 1996, the FDA took a major step intended to make it easier and less costly for manufacturers to bring to market medical devices for orphan diseases. The Humanitarian Device Exemption (HDE) provisions of the Safe Medical Devices Act of 1990 allow a medical device to be approved as long as manufacturers show it is safe and has probable benefit to patients with an extremely rare condition. These regulations allow approval without costly clinical studies to establish effectiveness.

To qualify for HDE approval, the device must be intended for use in the treatment or diagnosis of a disease or condition affecting fewer than 4,000 individuals per year in the United States. Humanitarian use device designation is granted to sponsors developing a medical device that targets rare disease treatment.

Since October 1996, the OOPD has designated 51 humanitarian use devices, and 32 of these devices were given HDEs.

"The success of the ODA," Haffner says, "has also inspired the implementation of orphan legislation outside the United States to address the treatment needs of patients worldwide who have rare diseases." Subsequent legislation has taken the study of rare diseases to even greater heights.

Support for Research

Congress passed the "Rare Diseases Act of 2002," establishing a role for the ORD at the NIH in encouraging orphan disease research. The ORD provides information on rare diseases, diagnosis, and treatment. The office links investigators with research subjects and patients, identifies rare diseases where research is lagging or lacking, identifies rare disease research opportunities, and supports research in those areas.

The Rare Diseases Act authorized the expansion of national research in developing diagnostic tools and treatments for patients with rare diseases. In addition, Congress approved funding for several regional Centers of Excellence on rare diseases. The ORD makes grants to public or private nonprofit organizations to cover the cost of basic operating expenses for clinical research at these centers. These grants support training in and demonstration of diagnostic, prevention, control, and treatment methods for rare diseases.

The ORD responds to public inquiries about rare diseases, supports national and international scientific workshops, and maintains the ORD Web site and interactive rare diseases list. The workshops benefit the rare diseases community through promoting research, patient care, and disease awareness.

Patient Support Groups

Rare diseases affect so few people that information about them may be difficult to find, making the situation more traumatic and stressful. Before Congress enacted the ODA, families coping with a rare disease usually struggled alone. Support could only be found through telephone calls to other families suffering with similar diseases, and only if the names were provided by doctors.

Support groups such as the National Organization for Rare Disorders (NORD) have worked aggressively in the last 20 years to draw attention to people with rare diseases, especially the lack of treatment options. Paramount in NORD's ongoing cause are efforts to promote legislation, such as the ODA, that encourages further research and continuing development of products that are necessary — and often life saving — and to provide easier access to such treatments.

While only 1 in about 15,500 people get ALD, two of Paula Brazeal's sons died from it in the 1970s. Eager for more information, Brazeal and her husband Ron were among the founders of the ULF — a voluntary health organization dedicated to providing patients who have these diseases, and their families, with specific information.

"Twenty-five years ago support groups provided hand-holding for the emotionally needy," says Brazeal. "Today, we provide education, advocacy, a link between patients and clinical trials, and doctor referrals.

"And we serve as a communication network for families in matching up people geographically with similar diseases."

Equally important to being informed, Brazeal says, is being realistic: "Health care professionals should not sugar coat your disease. They need to be brutally honest with you so that you can level with other family members, especially kids." She adds, "There's more fear of the unknown, than when you're informed and prepared."

The role of the support group is evolving, says Brazeal. "I think the recent trends at FDA and NIH in encouraging scientists to become involved with patient support groups has brought research even further." Having had first-hand experience with the devastating effects of a rare disease, Brazeal adds, "We remember what it was like when there was no one at the other end of the phone line."

About the Author

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FDA is A United States government body that oversees medical devices, including contact lenses, intraocular lenses, excimer lasers and eyedrops. In the US, these products must be approved by the FDA before they can be marketed.