Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
.
Diseases
Validation
Diseases presenting
"a deficiency of specific lysosomal enzymes required for normal macromolecular metabolism"
symptom
fabry disease
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom