Development of a novel tool for individual treatment trials in mucopolysaccharidosis
Journal of Inherited Metabolic Disease,
Год журнала:
2024,
Номер
unknown
Опубликована: Ноя. 21, 2024
Abstract
Mucopolysaccharidosis
(MPS)
encompasses
a
group
of
genetic
lysosomal
storage
disorders,
linked
to
reduced
life
expectancy
and
significant
lack
effective
treatment
options.
Immunomodulatory
drugs
could
have
the
potential
be
relevant
medical
approach,
as
accumulation
undegraded
substances
initiates
an
innate
immune
response,
which
leads
inflammation
clinical
deterioration.
However,
immunomodulators
are
not
licensed
for
this
indication.
Consequently,
we
aim
provide
evidence
advocating
fast
access
innovative
individual
trials
(ITTs)
with
immunomodulatory
high‐quality
evaluation
drug
effects
by
implementing
risk–benefit
model
tailored
MPS.
The
iterative
methodology
our
novel
decision
analysis
framework
(DAF)
involves
three
key
steps:
(i)
literature
review
on
promising
targets
in
MPS;
(ii)
quantitative
assessment
(RBA)
selected
molecules;
(iii)
assigning
phenotypic
profiles
evaluations.
results
facilitate
personalized
application
based
published
well
interdisciplinary
experts'
consensus
patient
perspectives.
Four
been
identified:
adalimumab,
abatacept,
anakinra,
cladribine.
An
improvement
mobility
is
most
likely
while
anakinra
anticipated
choice
neuronopathic
MPS
patients.
Nevertheless,
comprehensive
RBA
should
always
completed
basis.
Our
evidence‐based
DAF
tool
ITTs
directly
addresses
substantial
unmet
need
characterizes
initial
stride
toward
precision
medicine
immunomodulators.
Язык: Английский
Overcoming Resistance in Anderson–Fabry Disease: Current Therapeutic Challenges and Future Perspectives
Journal of Clinical Medicine,
Год журнала:
2024,
Номер
13(23), С. 7195 - 7195
Опубликована: Ноя. 27, 2024
Anderson–Fabry
disease
(AFD)
remains
a
therapeutic
challenge
despite
advances
in
early
diagnosis
and
the
availability
of
enzyme
replacement
therapies
(ERTs).
While
initiation
therapy
can
mitigate
progression,
resistance
mechanisms—such
as
development
anti-drug
antibodies—limit
efficacy
current
treatments,
particularly
patients
with
severe
genetic
variants.
Chaperone
provides
targeted
option
for
subset
patients,
yet
significant
gaps
remain
treating
those
complete
deficiency.
This
perspective
article
explores
existing
landscape
reflects
on
emerging
such
mRNA
gene
therapies,
which
hold
promise
overcoming
mechanisms.
By
addressing
limitations
pharmacological
options
considering
future
innovations,
this
aims
to
outline
path
forward
more
effective
personalized
treatment
strategies
disease.
Язык: Английский