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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
"pain"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
aniridia
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital diaphragmatic hernia
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
neuralgic amyotrophy
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
pleomorphic liposarcoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
scrub typhus
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
trochlear dysplasia
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wolf-hirschhorn syndrome
This symptom has already been validated