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Patient-recorded outcome to assess therapeutic efficacy in protoporphyria-induced dermal phototoxicity: a proposal.
[erythropoietic protoporphyria]
Protoporphyria
(
PP
)
resulting
from
two
rare
,
inherited
diseases
of
heme
biosynthesis
leads
to
dermal
phototoxicity
by
accumulation
of
the
heme
precursor
protoporphyrin
IX
.
No
standardized
tools
to
quantify
the
degree
of
PP
-related
phototoxicity
and
its
change
by
medical
intervention
have
been
published
.
Results
from
a
questionnaire
completed
by
17
affected
individuals
were
used
to
determine
the
relative
importance
of
two
main
components
of
PP
-related
phototoxicity
,
skin
pain
and
sunlight
exposure
time
,
with
respect
to
the
effectiveness
of
any
particular
medical
treatment
.
Inter-rater
reliability
was
0
.
71
(
n
=
490
)
,
repeated
estimates
by
four
identical
individuals
showed
high
reproducibility
(
Slope
=
1
,
intercept
=
0
,
n
=
136
,
Passing-
Bablock
)
.
Six
different
models
were
developed
,
three
of
them
showed
good
correlation
with
effectiveness
estimates
.
Data
from
an
unpublished
trial
indicated
that
the
model
with
highest
potential
of
responsiveness
was
the
so
called
"
Exposure
times
[
multiplied
by
]
Freedom
from
Pain
"
(
ETFP
)
.
The
minimal
clinically
important
difference
(
MID
)
was
15
(
10
.
2
-
20
.
4
)
ETFP
scores
,
representing
28
%
of
the
standard
deviation
of
the
clinical
trial
data
and
2
.
9
%
of
its
total
range
.
Among
the
six
models
proposed
to
assess
the
effectiveness
of
therapeutic
interventions
in
PP
the
ETFP
model
demonstrates
the
highest
sensitivity
using
the
existing
data
from
a
clinical
trial
of
afamelanotide
in
PP
.
The
results
of
this
study
have
provided
sufficient
validation
of
the
ETFP
model
that
is
likely
to
prove
useful
in
future
clinical
trials
.
