Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Longitudinal quality of life analysis in a phenylketonuria cohort provided sapropterin dihydrochloride.
[phenylketonuria]
Sapropterin
dihydrochloride
effectively
lowers
plasma
phenylalanine
(
Phe
)
for
at
least
a
third
of
phenylketonuria
(
PKU
)
patients
,
with
potential
for
increased
dietary
Phe
tolerance
and
decreased
medical
food
requirement
.
To
investigate
long
-term
quality
of
life
(
QOL
)
in
patients
with
phenylketonuria
(
PKU
)
who
took
sapropterin
(
BH
4
,
Kuvan
®
)
for
up
to
one
year
.
37
PKU
patients
,
ages
10
-
49
years
,
were
asked
to
complete
a
PKU
-
specific
self-report
QOL
questionnaire
(
QOLQ
)
at
baseline
,
1
,
4
,
8
,
and
12
months
.
Questions
were
scored
on
a
5
-
point
Likert
scale
under
5
sub-sections
measuring
Impact
,
Worries
,
Satisfaction
,
Support
,
and
General
wellbeing
in
relation
to
PKU
.
Responders
with
a
plasma
Phe
decrease
≥
15
%
after
1
month
on
sapropterin
remained
on
the
drug
;
Nonresponders
ceased
sapropterin
after
the
trial
month
.
Responders
able
to
relax
medical
diet
and
maintain
plasma
Phe
control
were
classified
as
Definitive
;
Responders
unable
to
relax
medical
diet
were
classified
as
Provisional
.
All
patients
were
routinely
monitored
by
a
registered
dietitian
.
Data
was
analyzed
in
SPSS
19
.
0
using
regression
techniques
.
Of
17
Responders
,
11
could
maintain
adequate
Phe
control
on
a
less
restrictive
diet
.
One
year
mean
Impact
sub-score
trends
improved
significantly
for
all
sapropterin
response
groups
,
with
greatest
improvement
among
Definitive
Responders
(
p
<
0
.
0001
)
.
Satisfaction
sub-scores
also
improved
for
Definitive
Responders
(
p
=
0
.
001
)
.
Trends
for
Total
QOL
score
improved
significantly
over
time
for
both
Definitive
(
p
=
0
.
001
)
and
Provisional
Responders
(
p
=
0
.
028
)
.
Improvements
in
Definitive
Responder
scores
were
associated
with
increased
Phe
tolerance
(
Impact
:
p
<
0
.
0001
,
Satisfaction
:
p
=
0
.
022
,
Total
QOL
:
p
=
0
.
005
)
and
MF
adjustment
(
Satisfaction
:
p
=
0
.
014
,
Total
QOL
:
p
=
0
.
026
)
.
Other
sub-section
scores
remained
steady
,
unaffected
by
sapropterin
response
or
diet
modification
.
Increased
Phe
tolerance
and
reduced
MF
requirement
in
sapropterin
Definitive
Responders
improves
QOL
perception
across
one
year
,
specifically
for
life
impact
and
satisfaction
.
Diseases
Validation
Diseases presenting
"long-term quality"
symptom
phenylketonuria
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom