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Extended normal life after AAVrh10-mediated gene therapy in the mouse model of Krabbe disease.
[krabbe disease]
Globoid
cell
leukodystrophy
(
GLD
)
or
Krabbe
disease
is
a
neurodegenerative
disorder
caused
by
the
deficiency
of
the
lysosomal
enzyme
galactocerebrosidase
(
GALC
)
.
This
deficiency
results
in
accumulation
of
certain
galactolipids
including
psychosine
which
is
cytotoxic
for
myelin-producing
cells
.
Treatment
of
human
patients
at
this
time
is
limited
to
hematopoietic
stem
cell
transplantation
(
HSCT
)
that
appears
to
slow
the
progression
of
the
disease
when
performed
in
presymptomatic
patients
.
In
this
study
,
adeno-associated
virus
(
AAV
)
serotype
rh
10
-
(
AAVrh
10
)
expressing
mouse
GALC
was
used
in
treating
twitcher
(
twi
)
mice
,
the
mouse
model
of
GLD
.
The
combination
of
intracerebroventricular
,
intracerebellar
,
and
intravenous
(
iv
)
injection
of
viral
particles
in
neonate
twi
mice
resulted
in
high
GALC
activity
in
brain
and
cerebellum
and
moderate
to
high
GALC
activity
in
spinal
cord
,
sciatic
nerve
,
and
some
peripheral
organs
.
Successfully
treated
mice
maintained
their
weight
with
no
or
very
little
twitching
,
living
up
to
8
months
.
The
physical
activities
of
the
long
-lived
treated
mice
were
comparable
to
wild
type
for
most
of
their
lives
.
Treated
mice
showed
normal
abilities
to
mate
,
to
deliver
pups
,
to
nurse
and
to
care
for
the
newborns
.
This
strategy
alone
or
in
combination
with
other
therapeutic
options
may
be
applicable
to
treatment
of
human
patients
.