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Current and future pharmacological treatment strategies in X-linked adrenoleukodystrophy.
[adrenomyeloneuropathy]
Mutations
in
the
ABCD
1
gene
cause
the
clinical
spectrum
of
the
neurometabolic
disorder
X-
linked
adrenoleukodystrophy
/
adrenomyeloneuropathy
(
X-
ALD
/
AMN
)
.
Currently
,
the
most
efficient
therapeutic
opportunity
for
patients
with
the
cerebral
form
of
X-
ALD
is
hematopoietic
stem
cell
transplantation
and
possibly
gene
therapy
of
autologous
hematopoietic
stem
cells
.
Both
treatments
,
however
,
are
only
accessible
to
a
subset
of
X-
ALD
patients
,
mainly
because
of
the
lack
of
markers
that
can
predict
the
onset
of
cerebral
demyelination
.
Moreover
,
for
female
or
male
X-
ALD
patients
with
AMN
,
currently
only
unsatisfying
therapeutic
opportunities
are
available
.
Thus
,
this
review
focuses
on
current
and
urgently
needed
future
pharmacological
therapies
.
The
treatment
of
adrenal
and
gonadal
insufficiency
is
well
established
,
whereas
applications
of
immunomodulatory
and
immunosuppressive
drugs
have
failed
to
prevent
progression
of
cerebral
neuroinflammation
.
The
use
of
Lorenzo
's
oil
and
the
inefficacy
of
lovastatin
to
normalize
very
-
long
-chain
fatty
acids
in
clinical
trials
as
well
as
currently
experimental
and
therefore
possible
future
therapeutic
strategies
are
reviewed
.
The
latter
include
pharmacological
gene
therapy
mediated
by
targeted
upregulation
of
ABCD
2
,
the
closest
homolog
of
ABCD
1
,
antioxidative
drug
treatment
,
small
molecule
histone
deacetylase
inhibitors
such
as
butyrates
and
valproic
acid
,
and
other
neuroprotective
attempts
.
Diseases
Validation
Diseases presenting
"demyelination"
symptom
adrenomyeloneuropathy
alexander disease
canavan disease
classical phenylketonuria
homocystinuria without methylmalonic aciduria
kallmann syndrome
krabbe disease
locked-in syndrome
neonatal adrenoleukodystrophy
neuralgic amyotrophy
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
sneddon syndrome
waldenström macroglobulinemia
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated
