Rare Diseases Symptoms Automatic Extraction
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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
.
Diseases
Validation
Diseases presenting
"leukodystrophy"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
classical phenylketonuria
coats disease
fabry disease
gm1 gangliosidosis
krabbe disease
neonatal adrenoleukodystrophy
phenylketonuria
pyruvate dehydrogenase deficiency
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated