Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Long-term follow-up after gene therapy for canavan disease.
[canavan disease]
Canavan
disease
is
a
hereditary
leukodystrophy
caused
by
mutations
in
the
aspartoacylase
gene
(
ASPA
)
,
leading
to
loss
of
enzyme
activity
and
increased
concentrations
of
the
substrate
N-
acetyl-aspartate
(
NAA
)
in
the
brain
.
Accumulation
of
NAA
results
in
spongiform
degeneration
of
white
matter
and
severe
impairment
of
psychomotor
development
.
The
goal
of
this
prospective
cohort
study
was
to
assess
long
-term
safety
and
preliminary
efficacy
measures
after
gene
therapy
with
an
adeno-associated
viral
vector
carrying
the
ASPA
gene
(
AAV
2
-
ASPA
)
.
Using
noninvasive
magnetic
resonance
imaging
and
standardized
clinical
rating
scales
,
we
observed
Canavan
disease
in
28
patients
,
with
a
subset
of
13
patients
being
treated
with
AAV
2
-
ASPA
.
Each
patient
received
9
×
10
(
11
)
vector
genomes
via
intraparenchymal
delivery
at
six
brain
infusion
sites
.
Safety
data
collected
over
a
minimum
5
-
year
follow-up
period
showed
a
lack
of
long
-term
adverse
events
related
to
the
AAV
2
vector
.
Posttreatment
effects
were
analyzed
using
a
generalized
linear
mixed
model
,
which
showed
changes
in
predefined
surrogate
markers
of
disease
progression
and
clinical
assessment
subscores
.
AAV
2
-
ASPA
gene
therapy
resulted
in
a
decrease
in
elevated
NAA
in
the
brain
and
slowed
progression
of
brain
atrophy
,
with
some
improvement
in
seizure
frequency
and
with
stabilization
of
overall
clinical
status
.
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