HEALTH
By Kirsten Weir
A KANSAS TEEN IS HOPING TO PARTICIPATE IN AN
EXPERIMENTAL THERAPy THAT MIGHT SAVE HIS LIFE.
K
yle Hicks is a typical high school junior in
many ways. The 17-year-oldft-omWichita,
Kan., plays video games and loves chocolate and mac 'n' cheese. He hopes to go to
college and study meteorology.
But Kyle's life has been far from typical. Since birth,
he has suffered from a painftjl and eventually fatal skin
disease. "I didn't really think there would be a cure
for the disease in my lifetime," Kyle says. Now he
has reason to think there will. Researchers at the
University of Minnesota (UM) are testing a promising
new treatment for the disease.
MISSING PROTEIN
Kyle has epidermolysis bullosa (EB), a rare, inherited
condition. The form of EB that Kyle has, recessive
dystrophic EB,, is the most severe. His body cannot
make a protein called collagen type VU. "Its function
is to make anchors between the upper layer of skin and
deeper layers of skin," says Jakub Tolar, a member
of the UM research team. Collagen type VII holds
the skin together "like Velero," he says. Without it,
the skin blisters and sloughs off at the slightest touch.
Kyle suffers from painftil blisters and open wounds
all over his body. Each day, he wraps himself in gauze
and bandages to ward off deadly infections. The
frequent wounds have caused scar tissue to build up,
fusing his fingers together.
The disease also causes scar tissue to form in the
stomach and the esophagus, the muscular tube that
leads from the mouth to the stomach. That scarring
prevents Kyle from absorbing the nutrients he needs
to grow. At 17, he's only 1.2 meters (4 feet) tall and
weighs just over 23 kilograms {50 pounds).
The constant skin damage eventually
causes an aggressive type of skin cancer.
Few people with recessive dystrophic EB
live beyond 30. "It's painful and stressllil," Kyle says.
Kyte Hicks looks younger than 17 because his
ondftion robs him of nutrients. He wraps himself
1 bandages because the condition makes his
tcin vulnerable to iniury and infection.
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October 17, 2008 CURRENT SCIENCE
STEM CELL
TRANSPLANT
Reading about his disease online
recently, Kyle came across an article
about UM's experimental treatment.
He e-mailed John Wagner, one of the
UM doctors, to say he wanted in.
Wagner, Tolar, and their colleagues
have spent several years searching
for a treatment for EB. Replacing
the missing protein, the researchers
reason, might cure the disease. They
began by experimenting on mice that
lacked collagen type VII, hoping that
an adull siem cell transplant might
hold the cure. Adult stem cells are
immature cells found in some tissues
that can mature and become many,
though not all, types of cells. After
much trial and error, Tolar discovered that stem cells in bone marrow
could supply the missing protein to
the sick mice. Bone marrow is the
soft, spongy tissue inside bones. It
contains adult stem cells that mature
into blood and immune system cells.
After receiving bone marrow transplants from healthy mice, some of
the EB mice got better.
L o s t A n c h o r Kyle Hicks's skin cannot make a protein that anchors the
epidermlsto the dermis. The epidermis is the body's protective armor. It has an
underlying layer of cells that are always dividing and pushing the newly made
cells to the surface. As the new cells move outward, they break down; fill with
a tough, waterproof protein called keratin: and die. The dermis contains only living
cells, including hair follicles, sweat glands, and blood vessels.
hair shaft
sensory nerve
After that breakthrough, the team
decided to test the treatment in
humans. Last fall, the researchers
performed a bone marrow transplant
on Nate Liao, a 2-year-old with EB.
They took bone marrow from Nate's
healthy brother, whose tissues matched Nate's.
Gradually, Nate's skin showed signs of healing. After a
few months, tests showed his body was making collagen
type VII for the first time. Some of the transplanted
stem cells seemed to have made their way to his skin,
where they matured and started pumping out the
missing protein. "I have watched Nate improve every
day," his mother, Theresa Liao, told the Los Angeles
Times in June.
RISKy PROCEDURE
Bone marrow transplants are not without risks. All
transplant patients must take powerful drugs to kill
oft"their own immune cells; otherwise, those cells
would attack and destroy the transplanted tissue. "Not
everybody is able to live tlirough the transplant," Tolar
says. Patients who do survive can end up with organ
damage, hormonal problems, and an increased risk
of developing cancer. But for people with EB and
other deadly diseases, the hope of a cure might well
be worth the risk.
hairfoilicis
epidermis
dermis
hypodermis
(fatty tissue)
muscle
fat cells
sweat gland
blood vessel
It's too soon to say with certainty that bone marrow
transplants can cure EB, Tolar cautions. Yet he's
optimistic. "We expect this to be a lifelong source of
cells that can express collagen type VII, but we don't
know for sure," he says. He and his colleagues plan
to perform several more bone marrow transplants on
EB patients over the next two years. Then, they'll know
better how successiul the treatment is.
Kyle hopes to be one of the test subjects. "I instantly
wanted to do it," he says. He's found a donor whose
bone marrow matches his ovra and is trying to raise
money to pay for the procedure. So far, his insurance
company refuses to pay for the $500,000 operation,
but Kyle is trying to change the company's mind. "I
could get better, mayhe even before I get out of high
school," he says. "I'm anxious and excited and ready
to do it anytime " CS
C o n t a c t i n g K y l e You can contact Kyle and read mors
ahout his story on his personal hlog: www.cotaforkyleh.com. I
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CURRENT SCIENCE October 17, 2008 7
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