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The NCS-LSD cohort study: a description of the methods and analyses used to assess the long-term effectiveness of enzyme replacement therapy and substrate reduction therapy in patients with lysosomal storage disorders.
[fabry disease]
Lysosomal
storage
disorders
(
LSDs
)
comprise
more
than
50
extremely
rare
,
inherited
metabolic
diseases
resulting
from
a
deficiency
of
specific
lysosomal
enzymes
required
for
normal
macromolecular
metabolism
.
The
National
Collaborative
Study
for
Lysosomal
Storage
Disorders
(
NCS-LSD
)
,
was
a
longitudinal
cohort
study
which
collected
prospective
and
retrospective
clinical
data
,
and
patient-reported
data
from
adults
and
children
with
a
confirmed
diagnosis
of
Gaucher
disease
,
Fabry
disease
,
mucopolysaccharidosis
type
I
(
MPS
I
)
,
mucopolysaccharidosis
type
II
(
MPS
II
)
,
Pompe
disease
and
Niemann
Pick
disease
type
C
(
NPC
)
in
the
UK
.
The
study
aimed
to
determine
the
natural
history
of
these
conditions
and
estimate
the
effectiveness
and
cost
of
therapies
.
Clinical
outcomes
were
chosen
to
reflect
disease
progression
.
Age-
and
gender-adjusted
treatment
effects
were
estimated
using
generalised
linear
mixed
models
.
Treated
patients
contributed
data
before
and
during
treatment
while
untreated
patients
contributed
natural
history
data
.
A
total
of
711
adults
and
children
were
recruited
to
this
study
from
the
seven
LSD
treatment
centres
in
England
.
Data
was
collected
from
2008
to
2011
.
This
paper
describes
the
methods
used
to
collect
and
analyse
clinical
data
for
this
study
.
The
clinical
findings
are
reported
separately
in
a
series
of
condition-
specific
articles
in
this
issue
.
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"confirmed diagnosis of gaucher disease, fabry disease"
symptom
fabry disease
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