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A single intravenous rAAV injection as late as P20 achieves efficacious and sustained CNS Gene therapy in Canavan mice.
[canavan disease]
Canavan
's
disease
(
CD
)
is
a
fatal
pediatric
leukodystrophy
caused
by
mutations
in
aspartoacylase
(
AspA
)
gene
.
Currently
,
there
is
no
effective
treatment
for
CD
;
however
,
gene
therapy
is
an
attractive
approach
to
ameliorate
the
disease
.
Here
,
we
studied
progressive
neuropathology
and
gene
therapy
in
short
-lived
(
≤
1
month
)
AspA
(
-
/
-
)
mice
,
a
bona
-fide
animal
model
for
the
severest
form
of
CD
.
Single
intravenous
(
IV
)
injections
of
several
primate
-derived
recombinant
adeno-associated
viruses
(
rAAVs
)
as
late
as
postnatal
day
20
(
P
20
)
completely
rescued
their
early
lethality
and
alleviated
the
major
disease
symptoms
,
extending
survival
in
P
0
-
injected
rAAV
9
and
rAAVrh
8
groups
to
as
long
as
2
years
thus
far
.
We
successfully
used
microRNA
(
miRNA
)
-
mediated
post-transcriptional
detargeting
for
the
first
time
to
restrict
therapeutic
rAAV
expression
in
the
central
nervous
system
(
CNS
)
and
minimize
potentially
deleterious
effects
of
transgene
overexpression
in
peripheral
tissues
.
rAAV
treatment
globally
improved
CNS
myelination
,
although
some
abnormalities
persisted
in
the
content
and
distribution
of
myelin-
specific
and
-
enriched
lipids
.
We
demonstrate
that
systemically
delivered
and
CNS-
restricted
rAAVs
can
serve
as
efficacious
and
sustained
gene
therapeutics
in
a
model
of
a
severe
neurodegenerative
disorder
even
when
administered
as
late
as
P
20
.
Diseases
Validation
Diseases presenting
"first time"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
trochlear dysplasia
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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