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Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort study.
[fabry disease]
To
determine
the
effectiveness
of
enzyme
replacement
therapy
(
ERT
)
for
adults
and
children
with
Fabry
disease
.
Cohort
study
including
prospective
and
retrospective
clinical
data
.
Age-
and
gender-adjusted
treatment
effects
were
estimated
using
generalised
linear
mixed
models
.
Treated
patients
contributed
data
before
and
during
treatment
and
untreated
patients
contributed
natural
history
data
.
Consenting
adults
(
N
 
=
 
289
)
and
children
(
N
 
=
 
22
)
with
a
confirmed
diagnosis
of
Fabry
disease
attending
a
specialist
Lysosomal
Storage
Disorder
treatment
centre
in
England
.
At
recruitment
211
adults
and
seven
children
were
on
ERT
(
range
of
treatment
duration
,
0
to
9
.
7
and
0
to
4
.
2
Â
years
respectively
)
.
Clinical
outcomes
chosen
to
reflect
disease
progression
included
left
ventricular
mass
index
(
LVMI
)
;
proteinuria
;
estimated
glomerular
filtration
rate
(
eGFR
)
;
pain
;
hearing
and
transient
ischaemic
attacks
(
TIA
)
/
stroke
.
We
found
evidence
of
a
statistically
significant
association
between
time
on
ERT
and
a
small
linear
decrease
in
LVMI
(
p
 
=
 
0
.
01
)
;
a
reduction
in
the
risk
of
proteinuria
after
adjusting
for
angiotensin-converting
enzyme
inhibitors
and
angiotensin
receptor
blockers
(
p
 
<
 
0
.
001
)
and
a
small
increase
in
eGFR
in
men
and
women
without
pre-treatment
proteinuria
(
p
 
=
 
0
.
01
and
p
 
<
 
0
.
001
respectively
)
.
The
same
analyses
in
children
provided
no
statistically
significant
results
.
No
associations
between
time
on
ERT
and
pain
,
risk
of
needing
a
hearing
aid
,
or
risk
of
stroke
or
TIAs
,
were
found
.
These
data
provide
some
further
evidence
on
the
long
-term
effectiveness
of
ERT
in
adults
with
Fabry
disease
,
but
evidence
of
effectiveness
could
not
be
demonstrated
in
children
.
Diseases
Validation
Diseases presenting
"pain"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
aniridia
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital diaphragmatic hernia
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentin dysplasia
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
focal myositis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
neuralgic amyotrophy
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
pleomorphic liposarcoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
scrub typhus
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
trochlear dysplasia
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wolf-hirschhorn syndrome
This symptom has already been validated
