Medical Device Daily Washington Editor

The National Institutes of Health (NIH) has traditionally tackled new and poorly understood diseases via traditional research, but the agency said it will henceforth take a more direct approach under the banner of the Undiagnosed Diseases Program (UDP).

NIH director Elias Zerhouni, MD, and several other senior members of NIH laid out the idea in a conference call yesterday. Zerhouni led off with the remark that the goal of the UDP is to "improve disease management for individual patients and to advance medical knowledge in general."

"This great initiative ... could be very transformative," Zerhouni said, adding that the practicing physician may be confronted with any one of 6,000 rare conditions and only about 600 well-known ones.

On the other hand, "even common diseases have many subtypes," he said, including diabetes, a fact that may explain as much as genetics does about why individuals have such different reactions to drugs.

"We're going to see patients earlier and earlier in the natural history of their disease," Zerhouni said, so diagnoses have to happen earlier. He described the program as something that will make NIH "the National Institute of Hope."

William Gahl, PhD, clinical director of the National Human Genome Research Institute, laid out a few more details. He said, "I have long been aware of the need for an undiagnosed diseases program."

However, patients cannot simply e-mail NIH and expect to get into the program. "We've established a fairly stringent referral process," he said, adding that "participants have to be referred" by a provider, which can be an MD or a nurse practitioner. The program will accept one or two patients a week up to 100 per year.

"The care is free for the patient and NIH will pay for travel and lodging," Gahl said. "Dozens of NIH's senior physicians will collaborate" on these cases, bringing a wide range of specialties to bear on these patients. The resulting data will fill out "a phenotype atlas for the country." Gahl, who will direct the program, also said the work should lead to groundbreaking articles in peer review literature.

Stephen Groft, PharmD, director of the NIH Office of Rare Diseases (ORD), said, "this project ... may lead to other clinical trials and studies" based on discoveries made during the course of treatment. He also said NIH had recently conducted a briefing with patient groups, in part prompted by the fact that NIH is "seeing an evolution of the role of patient advocacy groups as funders of projects."

Groft pointed out that this announcement coincides with the 25th anniversary of 1983's Orphan Drug Act and the establishment of the National Organization for Rare Disorders. Only about half the patients whose illnesses put them on this latter organization's list get a correct diagnosis within a year while another 35% wait five years. Given that, "I think the significance of the program is quite understandable," he said.

Amanda Young, 26, of Conyers, Georgia, was a patient in attendance on the call. "For years, my parents searched for the answers" to infections that routinely hit her, she said. Evaluations of her immune system seemed normal "except for one small thing; a continuously low white blood cell count."

Young said that by the age of three, she'd had "an abdominal abscess the size of a cantaloupe" removed along with multiple cases of meningitis. "My first visit (to NIH) was in 1990," she said, and Gallin, who was involved in her care, "said he would never give up on me, and he never has."

Echoing the frustration of anyone who has watched their health spiral down with no apparent cause, Young said, "all we (she and her parents) ever wanted was for my disease to have a name," which turns out to be the oddly named IRAK-4 (interleukin-1 receptor-associated kinase) deficiency.

"I haven't had a major infection in four years" thanks to NIH's work, she said, adding that she nonetheless has to keep an eye on her health. And "although my disease has a name, we don't have a treatment or a cure." However, Young asserted that the announcement of the new program "is like giving someone their life back."

"This is the most exciting news that anyone suffering from a rare disease can hear," she said. Young also told attendees on the call that NIH "is like a home away from home for me."

Bundled payment demo set to go

The Centers for Medicare & Medicaid Services (CMS) is easily one of the busiest agencies in the federal government, and as if to prove it, CMS reported a bundled payment demonstration project that will test whether such a payment strategy will cut Medicare costs and improve care.

The Acute Care Episode (ACE) demonstration will use "a global payment to better align the incentives for both types of providers leading to better quality and greater efficiency, the May 16 statement said. CMS also hopes to "test the effect that transparent price and quality information has on beneficiary choice and provider referrals for select inpatient care."

Acting CMS administrator Kerry Weems said the program will "demonstrate how to not only better coordinate inpatient care, but to also achieve savings in the delivery of that care that can ultimately be shared between providers, beneficiaries, and Medicare."

Only one site will be selected from Texas, New Mexico, Colorado and Oklahoma, and the bundling of Medicare Part A and B payments will include "28 cardiac and nine orthopedic inpatient surgical services." Those procedures were selected because "profit margins and volume have historically been high," according to CMS, and "there is sufficient marketplace competition to ensure interested demonstration applicants."

Among the procedures on the list are valve surgeries, coronary bypass operations, and implants of defibrillators and pacemakers. Implantations of drug-eluting and bare-metal stents are also on the list. CMS is accepting applications until Aug. 28.