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News from News-Medical.net Sept.
12, 2007
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.
From:
http://www.news-medical.net/?id=29752
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