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Mitigating photosensitivity of erythropoietic protoporphyria patients by an agonistic analog of alpha-melanocyte stimulating hormone.
[erythropoietic protoporphyria]
Erythropoietic
protoporphyria
(
EPP
)
is
a
rare
hereditary
disorder
characterized
by
dermal
accumulation
of
the
photosensitizer
protoporphyrin
IX
.
Following
sunlight
exposure
,
the
resulting
photosensitivity
is
manifested
first
as
pain
,
later
as
erythema
,
edema
and
dermal
lesions
.
Afamelanotide
(
Nle
(
4
)
-
D-Phe
(
7
)
-
alpha-
MSH
)
,
a
synthetic
analog
of
alpha-melanocyte
stimulating
hormone
and
agonist
of
the
melanocortin-
1
-
receptor
,
promotes
melanin
synthesis
,
increasing
skin
pigmentation
.
This
study
examines
the
efficacy
of
afamelanotide
in
preventing
symptoms
in
patients
with
EPP
.
A
sustained-release
subcutaneous
implant
of
20
mg
afamelanotide
was
administered
twice
,
with
a
60
-
day
interval
to
five
EPP
patients
.
Therapeutic
efficacy
was
assessed
by
a
photoprovocation
test
using
standardized
white
light
irradiation
,
melanin
density
(
MD
)
determination
and
daily
recording
of
sunlight
exposure
and
symptoms
.
From
Day
30
to
Day
120
tolerance
to
photoprovocation
significantly
increased
compared
with
baseline
(
P
=
0
.
007
)
and
skin
MD
was
significantly
higher
than
that
recorded
at
baseline
(
P
=
0
.
004
)
.
Except
for
two
low
-grade
pain
episodes
,
patients
recorded
no
phototoxic
events
past
Day
4
of
treatment
.
Tolerance
to
natural
sunlight
was
up
to
24
times
longer
than
prior
to
therapy
.
The
findings
demonstrate
beneficial
effects
of
afamelanotide
in
patients
with
EPP
.
Due
to
the
limited
number
of
patients
enrolled
and
the
design
being
an
open
-label
study
,
confirmation
by
a
large
-scale
trial
is
required
.
Diseases
Validation
Diseases presenting
"skin pigmentation"
symptom
cushing syndrome
epidermolysis bullosa simplex
erythropoietic protoporphyria
kindler syndrome
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