About Nathan’s Battle
Late Infantile Batten Disease Q&A
There is a Battle going on to save the lives of innocent
children. One such child is Nathan Milto. On the
outside Nathan once appeared to be a typical, normal
little boy. But on the inside a terrible disease began
taking over a few years ago. Nathan has been
diagnosed with Late Infantile Batten Disease (CLN2),
a fatal degenerative neurological disorder. This once
outgoing little boy is now completely blind, and has
regressed in skills he had previously mastered.
Nathan’s future consists of seizures, loss of motor
control, and loss of the ability to think and reason
coherently. Batten disease is currently always fatal,
with the average life expectancy approximately ten to
twelve years of age. That is why family, friends,
philanthropists, politicians, scientists, biotechs, and
regulatory bodies have banded together to fight
“Nathan’s Battle.”
Q: WHAT IS LATE INFANTILE BATTEN DISEASE?
A: Late Infantile Batten disease is a fatal, inherited
enzyme deficient autosomal recessive genetic disorder
grouped in the family of neuronal ceroid lipofuscinoses
disorders (or NCLs). Children missing the enzyme
(TPP1), over time suffer mental impairment, worsening
seizures, and progressive loss of sight and motor skills.
Eventually the child will become bedridden and unable
to communicate. Currently, the disease is always fatal,
with the average life expectancy around ten years old.
In 2001, more devastation beset the same Milto family.
Test results from their youngest son, P.J., came back
positive for Batten Disease. Now, NATHAN’S
BATTLE BECOMES A WAR!
NBF has expanded into it’s own “Non-for-profit
biotech” company, pursuing therapies in multiple areas
developing novel approaches to accomplish our goals.
Our lead project, the gene transfer project at Cornell,
has begun human clinical trials. With your help we
will save lives!!!
Q: HOW MANY CHILDREN ARE AFFECTED?
A: Batten Disease prevalence in recent studies have
shown to be 1 in every 20,800 new births. Given better
diagnostic capabilities within the last few years via
DNA analysis, NCLs are becoming more and more
prevalent. The disease has been identified worldwide.
LINCL is similar to over 40 other LSDs in which
common therapy technologies can benefit the entire
group of disorders, which could have impact on over
50,000 patients.
Q: WHAT CAUSES BATTEN DISEASE?
A: Both parents must carry the recessive gene that if
passed to the child, results in the symptoms described.
The disease then attacks the metabolic properties of the
nervous system, preventing cells of the body from
recycling waste. Without the recycling process cells of
the brain, eyes, skin, muscle and other tissues begin to
break down. Without the enzyme, the normal
recycling process is not able to occur in the cell.
Q. WHAT RESEARCH IS BEING DONE TO
DEVELOP THERAPIES FOR LINCL?
A. The Nathan’s Battle Foundation is working to
develop therapies. The foundation is focusing on four
viable therapeutic areas: gene transfer, drug therapy,
stem cell therapy, and enzyme replacement:
P.J., Nicholas, and Nathan Milto
Childhood innocence
Gene Transfer Therapy - This therapy would
introduce a functioning gene into the CNS of a LINCL
patient. This functioning gene would produce the
necessary enzyme that is required by the CNS to
remove the harmful storage material. In principle this
would be a long-term cure for the disease. NBF is
working with Cornell University’s Institute of Genetic
Medicine to develop a gene transfer therapy. The team
has successfully manufactured the drug, tested it in
rodents and non-human primates, developed protocols
and received approvals from the FDA. Human clinical
trials have begun.
Small Molecule Pharmaceuticals- This therapy would
introduce a drug compound into the body that could
cross the blood brain barrier into the CNS of a patient
to either enhance residual enzyme activity or remove
the storage material that is harmful to the patient. NBF
is working with a biotech company in Massachusetts to
greatly expand our drug-screening program. This is a
major project to screen several compound libraries.
NBF is the first and currently the only organization
performing drug screening for CLN2. Several
compounds have been identified that demonstrated
benefit to CLN2 cells. These compounds are currently
being evaluated further and hopes will be to try them in
patients soon.
Adult Stem Cell Therapy- This therapy would
involve injecting adult/synthetic stem cells into the
CNS. LINCL can benefit in two ways from stem cells.
First, stem cells can be used to produce the missing
enzyme in the CNS and second, they can aid in the
regeneration of the CNS to regain function. NBF is
currently evaluating stem cell proposals for CLN2 to
develop cell mediated therapies for clinical application.
NBF has initiated several cell mediated projects/
studies. Each project is evaluating the most promising
approaches for neurodegenerative disorders. If a proof
of concept is demonstrated in NCL models, then a
clinical program will be pursued. One project has
demonstrated a proof of concept and is mounting a
clinical program. Additional cell mediated approaches
are being pursued.
Enzyme Replacement Therapy- This therapy would
inject the enzyme that the patient is missing into the
CNS. This therapy would work well but there are
delivery issues with having to continually inject
enzyme into a patient’s CNS. NBF is evaluating blood
brain barrier technologies that address the delivery
issue. New technologies are being discovered that aid
compounds/enzymes to cross the BBB by altering the
properties of this protective barrier. Several
technologies are being evaluated to aid in delivery of
the missing enzyme to the brain. NBF has initiated
some preliminary studies in this area and is interested
in exploring more technologies.
For more information visit www.nathansbattle.com
Highlights of Nathan’s Battle
Accomplishments
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Identified gene transfer as a therapy and
organized the necessary components to
advance toward the clinic.
Identified, developed, initiated and is funding
a multi-million-dollar gene transfer therapy
program with the Weil Medical college of
Cornell University. Human Clinical Trials
have begun!!!
Developing a network of research information
and have fostered collaboration between
academic groups and private sector biotech
companies.
Developed and implemented a not-for-profit
therapy development model designed to
leverage platform technologies to advance the
therapy development process for rare diseases.
First organization in world to initiate, develop,
and sponsor a small molecule drug-screening
programs for LINCL.
Developed a multi-faceted approach to propel
therapy development utilizing, science,
business, awareness, fundraising, politics, and
the regulatory bodies of the NIH and FDA to
advance therapy development.
Developed business plan to illustrate the large
impact of therapy development for LINCL by
leveraging learned technologies to other
related disorders.
Organized and have held multiple NCL
therapy focused workshops with research
professionals, private industry biotech
organizations, regulatory agencies of the FDA
and NIH, clinicians and neurosurgeons driving
therapy development for the NCLs.
Nationally recognized as a LINCL leading
authority by the NIH.
Regularly invited to NIH sponsored
workshops for rare disease therapy
development.
Achieved national notoriety of efforts from
being featured on CBS national new program
48 Hours. The national media is following
Nathan’s Battle Foundation.
Accomplishments continued…
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Organized and held the Stem Cell Initiative
event during the National Neuroscience
meetings in San Diego, CA.
Cultivated, initiated, designed and funding a
cell mediated therapy development program
for LINCL. Which include 3 separate projects
using variations in cell mediated technologies.
Cultivated, initiated and funding enzyme
replacement therapy programs focusing on
blood brain barrier technologies.
Why Support NBF:
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Nathan’s Battle Foundation has saved lives of
future generations of children.
You can make a difference by helping to save
lives of today’s generation of children around
the world.
LINCL is a good model disorder to pilot
therapy technologies.
“Easy” rare disease to solve given that it is
truly an enzyme deficient disorder.
Risk/benefit ratio is in favor of therapy.
Orphan disease status.
Foundation focused on therapy development
only, propelling basic research to the clinic.
Developing therapies for LINCL can help
over 40 other related diseases saving over
50,000 lives.
YOU CAN MAKE A DIFFERENCE.
Nathan’s Battle Foundation
FIGHTING TO DEVELOP A CURE
FOR BATTEN DISEASE
A RARE, FATAL
CHILDHOOD
NEUROLOGICAL DISORDER
THE CURE IS WITHIN REACH…
Nathan’s Battle Foundation
459 South State Road 135
Greenwood, IN 46142
(Federal Tax ID: 35-2102600)
501 (c) (3) tax exempt foundation
(317) 888-7396
YOU CAN HELP!!!