Rochester receives $1.2 million to battle rare childhood disease

"For an orphan disease like Batten, which has such a clear-cut course of deterioration and no present cure, this grant is transformative both for these families and for us, as clinicians and researchers."

A $1.2 million grant from the National Institutes of Health will bolster University of Rochester experts' research and care efforts for children suffering Batten disease, a rare neurological disorder that erupts without warning, stealing kids' sight, crippling their cognitive and motor capacities, and ultimately, taking their lives.

Only about 150 children in the U.S. are currently living with Batten disease; many of them are siblings, as parents who carry the Batten gene have a one in four chance of conceiving a child with the disorder. For these multiply affected households especially, the impossibility of finding answers and care can quickly become as trying as the illness itself.

“This is a devastating disease,” said pediatric neurologist and the grant's principal investigator, Jonathan Mink, M.D., Ph.D., who leads the University of Rochester 's Batten Disease Diagnostic and Clinical Research Center . “A million dollars for Batten research is vastly different than a million dollars for similar efforts for something like cancer. For an orphan disease like Batten, which has such a clear-cut course of deterioration and no present cure, this grant is transformative both for these families and for us, as clinicians and researchers.”

For the past five years, the research and patient care conducted by the university's Batten disease center has been buoyed by small grants from the Batten Disease Support and Research Association, a networking organization for affected families. But now, dispersed over the course of four years, the jolt in funding amounts to more than $1,200 per patient, annually – an impact roughly eight times that of the per-patient funding allotted to Alzheimer's research in 2005, and 18 times that awarded to autism research the same year.

But this investment, enormous for a disease affecting such a small segment of the population, is not just meant to bring hope to Batten disease; it will likely also inform research efforts for a dozen or so of its cousins – other uncommon genetic diseases, each characterized by a unique glitch in enzyme functions important to the body's toxin-ridding cells, the lysosomes. When these vital enzymes malfunction, or when they are lacking altogether, lysosomes cannot perform. The fallout is not unlike missing the garbage collector weeks in a row; the wastes pile up, swelling cells, interrupting cell business and ultimately destroying tissues and organs.

Some of these lysosomal-storage diseases, as they're called, include Krabbe disease (to which Buffalo Bills quarterback Jim Kelly lost his son, Hunter, in 2005), Tay-Sachs and metachromatic leukodystrophy. Research focused on this rare cluster of neurodegenerative disorders is best advanced when grassroots fundraising and awareness efforts, usually allied by a handful of emotive personal stories, combine with creative, top researchers and expert clinicians – like those in Rochester .

“This isn't heart disease or diabetes, with gluts of willing people willing to help with clinical trials and investigative efforts. The sample size is miniscule, comparatively, and shrinks further when you consider that patients are exceedingly fragile, mostly children, and dispersed all over the country. On top of that, these children represent a range of stages in neurodegeneration, which lends poorly to a typical research trials, where minimizing variation as much as possible is the ideal,” Mink said. “Really, this funding is just as much about us researching how one begins to do rare disease research as it is about researching Batten disease.”

Mink hopes that the methods Rochester researchers use to develop therapies for Batten-affected children can be rendered useful time and again, to help sufferers of other lysosomal storage diseases, and really, on a broader scale, to glean insight that may guide other researchers studying any rare disease.

Mink said that as much as 20 percent of the funds will be used to subsidize travel expenses for those seeking expert care found only in Rochester , N.Y. He hopes that by alleviating these costs for families – a common hurdle faced in rare disease research and patient care – the clinic will be able to grow from seeing six to 12 new patients a year, to seeing 20. In some cases, where there are multiple Batten families in close proximity, Mink said the clinic may take to flight, coming right to the kids.

“We hope that in the fourth year of funding we will have seen anywhere from 50 to 75 percent of all the children living with Batten disease in this country,” Mink said. “That's a huge undertaking, especially considering that so far, the bulk of our evaluations of these children have been accomplished via an annual, hotel-based clinic.”

Rochester is “beautifully positioned” for the new challenge, Mink added. The University of Rochester Medical Center's is already home to internationally renowned Batten disease expert, David Pearce, Ph.D., a biochemist who helped organize the BDSRA clinic that Mink directs. Pearce leads a research team that has published more than 50 studies about the disease's basic mechanisms.

The center has also developed a disease rating scale, a measuring tool crucial to standardizing Batten disease research. Its researchers are also nearing in on the possibility of future clinical trials in humans, thanks to promising preliminary studies in mice; these trials would investigate therapies that step beyond merely treating systems and perhaps hint at altering the course of the disease.

Together, these elements have made Rochester a beacon of hope for the hundreds Batten families. But that power must be wielded responsibly, Mink said.

“As researchers, newly empowered by this landmark gift, we must pay attention that we don't promise what we can't deliver,” Mink said. “Presently, the trials we would consider wouldn't reverse the disease, but might have effect in stalling it. We are thrilled at these possibilities, but we must be careful with what parents hear. So many families are willing to do next to anything for chance at cure or stalling the progression, and we mustn't take advantage of that desperation.”

The first $308,000 installment of the NIH grant was effective Aug. 1 from the National Institute of Neurological Disorders and Stroke. Mink will is joined by research collaborators in Pearce's lab, along with clinical colleagues Fred Marshall, M.D., Jennifer Kwon, M.D., Heather Adams, Ph.D., Amy Vierhile, P.N.P. and Lisa deBlieck, who together will work to provide innovative care to Batten families.