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Prioritization of therapy uncertainties in Dystrophic Epidermolysis Bullosa: where should research direct to? an example of priority setting partnership in very rare disorders.
[dystrophic epidermolysis bullosa]
Dystrophic
Epidermolysis
Bullosa
(
DEB
)
is
a
rare
genodermatosis
(
7
cases
per
million
)
that
causes
blisters
and
erosions
with
minor
trauma
in
skin
and
mucosa
,
and
other
systemic
complications
.
A
recently
updated
systematic
review
showed
that
the
research
evidence
about
DEB
therapies
is
poor
.
As
new
trials
in
DEB
are
difficult
and
expensive
,
it
is
important
to
prioritizise
research
that
patients
and
clinicians
consider
more
relevant
.
To
describe
and
prioritize
the
most
important
uncertainties
about
DEB
treatment
shared
by
patients
,
carers
and
health
care
professionals
(
HCPs
)
in
order
to
promote
research
in
those
areas
.
A
DEB
Priority
Setting
Partnership
(
PSP
)
was
established
,
including
patients
,
carers
and
HCPs
.
DBE
uncertainties
were
gathered
from
patients
and
clinicians
,
and
prioritized
in
a
transparent
process
,
using
the
methodology
advocated
by
the
James
Lind
Alliance
.
In
the
consultation
stage
,
323
uncertainties
were
submitted
by
58
participants
.
Once
the
duplicated
and
non-treatment
uncertainties
were
removed
,
the
remainder
were
reduced
to
a
list
of
24
most
voted
questions
.
These
24
uncertainties
were
prioritized
in
a
final
workshop
where
a
balanced
number
of
patients
,
carers
and
HCPs
selected
the
top
10
therapy
uncertainties
.
The
final
list
includes
interventions
in
wound
care
,
itch
and
pain
management
,
treatment
and
prevention
of
syndactyly
,
cancer
prevention
and
future
promising
therapies
.
The
final
list
of
the
top
10
treatment
uncertainties
on
the
management
of
DEB
provides
guidance
for
researchers
and
funding
bodies
,
to
ensure
that
future
research
answers
questions
that
are
important
to
both
clinicians
and
patients
.
The
method
proposed
by
the
James
Lind
Alliance
is
feasible
for
very
rare
disorders
.
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