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A safety trial of high dose glyceryl triacetate for Canavan disease.
[canavan disease]
Canavan
disease
(
CD
MIM
#
271900
)
is
a
rare
autosomal
recessive
neurodegenerative
disorder
presenting
in
early
infancy
.
The
course
of
the
disease
is
variable
,
but
it
is
always
fatal
.
CD
is
caused
by
mutations
in
the
ASPA
gene
,
which
codes
for
the
enzyme
aspartoacylase
(
ASPA
)
,
which
breaks
down
N-
acetylaspartate
(
NAA
)
to
acetate
and
aspartic
acid
.
The
lack
of
NAA-degrading
enzyme
activity
leads
to
excess
accumulation
of
NAA
in
the
brain
and
deficiency
of
acetate
,
which
is
necessary
for
myelin
lipid
synthesis
.
Glyceryltriacetate
(
GTA
)
is
a
short
-chain
triglyceride
with
three
acetate
moieties
on
a
glycerol
backbone
and
has
proven
an
effective
acetate
precursor
.
Intragastric
administration
of
GTA
to
tremor
mice
results
in
greatly
increased
brain
acetate
levels
,
and
improved
motor
functions
.
GTA
given
to
infants
with
CD
at
a
low
dose
(
up
to
0
.
25
g
/
kg
/
d
)
resulted
in
no
improvement
in
their
clinical
status
,
but
also
no
detectable
toxicity
.
We
present
for
the
first
time
the
safety
profile
of
high
dose
GTA
(
4
.
5
g
/
kg
/
d
)
in
2
patients
with
CD
.
We
treated
2
infants
with
CD
at
ages
8
months
and
1
year
with
high
dose
GTA
,
for
4
.
5
and
6
months
respectively
.
No
significant
side
effects
and
no
toxicity
were
observed
.
Although
the
treatment
resulted
in
no
motor
improvement
,
it
was
well
tolerated
.
The
lack
of
clinical
improvement
might
be
explained
mainly
by
the
late
onset
of
treatment
,
when
significant
brain
damage
was
already
present
.
Further
larger
studies
of
CD
patients
below
age
3
months
are
required
in
order
to
test
the
long
-term
efficacy
of
this
drug
.
Diseases
Validation
Diseases presenting
"late onset"
symptom
adrenomyeloneuropathy
cadasil
canavan disease
congenital adrenal hyperplasia
cowden syndrome
cutaneous mastocytosis
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
krabbe disease
neonatal adrenoleukodystrophy
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
thoracic outlet syndrome
triple a syndrome
zellweger syndrome
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