Washington Editor

WASHINGTON - Dozens of patients with polycystic kidney disease (PKD) on Friday fanned out across Capitol Hill to lobby on behalf of the Genetic Information Non-Discrimination Act, a bill that remains just short of passage in the House of Representatives.

Clad in matching green T-shirts, they reached out in particular to members of three committees in which the measure has been mired. It already passed in the Senate, unanimously, and President Bush has indicated that he would sign it into law.

Despite that support, H.R. 1227 has "languished" in the House, said Dan Larson, the president of the PKD Foundation. Speaking at a press conference to kick off the day's efforts, he charged that political squabbling over committee jurisdiction is partly to blame for the bill's slowdown. There are 208 backers, 10 votes shy of ratification.

That's proved particularly troubling to patients with a host of genetic diseases who fear the potential consequences of acknowledging their conditions. Being labeled with PKD, for instance, could lead to insurance and employment denials, a number of patients said at the press conference. As a result, many of them avoid participating in clinical trials to investigate therapies that could improve their lives, in spite of the troubling toll the disease causes them.

Clearly that's a Catch 22.

Research has shown that a calcium signal is "out of whack" in PKD patients, said Ronald Perrone, the chair of the foundation's scientific advisory committee. To overcome that issue, a product called tolvaptan is in development to inhibit the vasopressive B2 receptor to slow or stop cyst growth. Essentially a diuretic for disorders characterized by low-sodium concentrations, it is near completion of Phase II, and a larger Phase III trial is on the horizon.

Otsuka Maryland Research Institute Inc. is behind the product.

Other studies are evaluating compounds that affect the angiotensin blockade for PKD, as well as statins and immunosuppressives. Like most diseases, early intervention would prove beneficial. The slow progression of cyst growth eventually leads to a sudden loss of kidney function, according to recent MRI data published in the New England Journal of Medicine, so early treatment could halt or slow PKD before it causes organ failure.

"It's exciting to have a new technique to measure progression, and we have a bunch of studies and potentially new drugs to look at," Perrone told BioWorld Today, though he acknowledged the difficulties of patient recruitment. "You want people to get therapy and get into clinical trials, but they're afraid."

Larson said PKD affects an average of 1,400 Americans in each of the 435 congressional districts in the U.S. That amounts to more Americans than the combined number of patients with sickle cell anemia, hemophilia, muscular dystrophy, Down's syndrome and Huntington disease.

Rep. Judy Biggert (R-Ill.), H.R. 1227's original sponsor, said "we're so close" to having the requisite number of votes for passage. Contrary to Larson's concerns that committee wrangling slowed the bill's progress, she pointed to an ongoing dialogue with business interests that are afraid the measure could open up employers to more liability claims and therefore raise costs.

Biggert, who asserted that H.R. 1227 "is being pushed and pushed and pushed," noted that its backers continue to await a hearing.

"With the protections contained in H.R. 1227, I think that Americans will realize that they shouldn't fear genetic testing," she said. "They shouldn't be paranoid."

Other patient advocate groups supporting the bill include the National Hemophilia Foundation and the Genetic Alliance.

Stem Cell Stump Goes On

Opponents of federal dollars for embryonic stem cell research aggressively pushed their agenda last week, at the same time as findings were released from a government-backed preclinical study supporting the science.

The rush of activity is ahead of a possible Senate vote on federal funding for various stem cell research efforts, expected sometime this summer.

Sen. Sam Brownback (R-Kan.) hosted a news conference to highlight the progress of stem cells derived from cord blood and adult sources. At the gathering, patients who largely have overcome their conditions praised such treatments in helping them beat spinal injury, cerebral palsy, brain damage, leukemia and heart failure.

In contrast, Brownback criticized progress made to date with embryonic stem cells as slow. "Let's not divert funding from places that are being successful," he said, "to places that are completely speculative."

The event was supported by an organization called DoNoHarm, which touts itself as a coalition of Americans for research ethics. The group held a concurrent reception to further its support of adult and cord blood stem cells, which late last year received legislative backing when President Bush signed into law the Stem Cell Therapeutic and Research Act of 2005.

Another organization that strongly supports such stem cells, the National Pro-Life Action Center on Capitol Hill, also hosted an event last week in opposition to federal funding of embryonic stem cell research.

But new findings released last week by the National Institute of Neurological Disorders and Stroke, part of the National Institutes of Health, demonstrated embryonic stem cell success in treating paralyzed rats. Researchers from Johns Hopkins University enticed transplants of embryonic stem cell-derived motor neurons in the spinal cord to connect with muscles and partially restore function in the animals.

Specifically, rats that received a combination of transplanted motor neurons, chemicals capable of overcoming signals that inhibit axon growth, and a nerve growth factor to attract axons to muscles developed several hundred transplant-derived axons extending into the peripheral nervous system.

The axons in those animals reached all the way to the gastrocnemius muscle in the lower leg and formed synapses with the muscle. The rats showed an increase in the number of functioning motor neurons and an improvement of about 50 percent in hind-limb grip strength by four months after transplantation.

In contrast, other rats that received different combinations of treatments recovered lost function.

The report is being published in July's issue of the Annals of Neurology.

Senate Majority Leader Bill Frist (R-Tenn.) has said that the upper chamber would debate sometime this summer a measure that would expand federal funding for embryonic stem cell research, the Stem Cell Research Enhancement Act (H.R. 810).

Senate Considers FDA Funding

The Senate Appropriations Committee last week marked up H.R. 5384, the spending bill that includes funding for the FDA. It includes $1.9 billion for the agency, a figure that includes user fees. In it, the FDA is getting $50.5 million related to avian influenza preparedness. Part of the $94.6 billion Agriculture, Rural Development, Food and Drug Administration, and Related Agencies Appropriations Act for the next fiscal year, it already has passed the House committee.