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
.
