Journal of Neuromuscular Diseases,
Journal Year:
2024,
Volume and Issue:
unknown
Published: Dec. 8, 2024
Duchenne
muscular
dystrophy
is
a
severe
neuromuscular
disorder
characterized
by
progressive
muscle
degeneration
resulting
from
mutations
in
the
dystrophin
gene.
Digital
outcome
measures
offer
promising
alternative
to
traditional
used
clinical
trials.
This
review
explores
development
and
application
of
digital
dystrophy,
emphasizing
feasibility,
reliability,
sensitivity,
validity
these
measures.
The
stride
velocity
95th
centile
has
been
validated
as
robust
endpoint
approved
for
use
evaluation
drugs
treatment
European
Medicines
Agency.
Although
have
potential
enhance
efficiency
accuracy
trials,
challenges
such
limited
sample
sizes
patient
compliance
persist.
integration
artificial
intelligence
into
data
analysis
progress,
but
further
validation
required
before
strategies
can
be
incorporated
future
trial
methodologies.
Journal of Translational Medicine,
Journal Year:
2023,
Volume and Issue:
21(1)
Published: July 26, 2023
Abstract
Mitochondria
play
important
roles
in
maintaining
cellular
homeostasis
and
skeletal
muscle
health,
damage
to
mitochondria
can
lead
a
series
of
pathophysiological
changes.
Mitochondrial
dysfunction
atrophy,
its
molecular
mechanism
leading
atrophy
is
complex.
Understanding
the
pathogenesis
mitochondrial
useful
for
prevention
treatment
finding
drugs
methods
target
modulate
function
are
urgent
tasks
atrophy.
In
this
review,
we
first
discussed
normal
muscle.
Importantly,
described
effect
on
mechanisms
involved.
Furthermore,
regulatory
different
signaling
pathways
(AMPK-SIRT1-PGC-1α,
IGF-1-PI3K-Akt-mTOR,
FoxOs,
JAK-STAT3,
TGF-β-Smad2/3
NF-κB
pathways,
etc.)
factors
were
investigated
dysfunction.
Next,
analyzed
manifestations
caused
by
diseases.
Finally,
summarized
preventive
therapeutic
effects
targeted
regulation
including
drug
therapy,
exercise
diet,
gene
stem
cell
therapy
physical
therapy.
This
review
great
significance
holistic
understanding
role
muscle,
which
helpful
researchers
further
has
an
inspiring
development
strategies
targeting
future.
Cellular and Molecular Life Sciences,
Journal Year:
2024,
Volume and Issue:
81(1)
Published: Jan. 30, 2024
Abstract
Skeletal
muscle
is
a
highly
specialized
tissue
composed
of
myofibres
that
performs
crucial
functions
in
movement
and
metabolism.
In
response
to
external
stimuli
injuries,
range
stem/progenitor
cells,
with
stem
cells
or
satellite
(MuSCs)
being
the
predominant
cell
type,
are
rapidly
activated
repair
regenerate
skeletal
within
weeks.
Under
normal
conditions,
MuSCs
remain
quiescent
state,
but
become
proliferative
differentiate
into
new
injury.
addition
MuSCs,
some
interstitial
progenitor
(IPCs)
such
as
fibro-adipogenic
progenitors
(FAPs),
pericytes,
expressing
PW1
negative
for
Pax7
(PICs),
side
population
(SPCs),
CD133-positive
Twist2-positive
have
been
identified
playing
direct
indirect
roles
regenerating
tissue.
Here,
we
highlight
heterogeneity,
molecular
markers,
functional
properties
these
explore
role
homeostasis,
aging,
muscle-related
diseases.
This
review
provides
critical
insights
future
therapies
aimed
at
treating
Journal of Veterinary Internal Medicine,
Journal Year:
2024,
Volume and Issue:
38(1), P. 135 - 144
Published: Jan. 1, 2024
Muscular
dystrophies
(MDs)
are
a
large,
heterogeneous
group
of
degenerative
muscle
diseases.
X-linked
dystrophin-deficient
MD
in
cats
is
the
first
genetically
characterized
cat
model
for
human
disease
and
few
novel
forms
have
been
identified.
Journal of Clinical Neurology,
Journal Year:
2025,
Volume and Issue:
21(1), P. 40 - 40
Published: Jan. 1, 2025
This
study
was
an
open-label,
dose-escalation,
phase
1
clinical
trial
to
determine
the
safety
and
dose
of
EN001
for
patients
with
Duchenne
muscular
dystrophy
(DMD).
EN001,
developed
by
ENCell,
are
allogeneic
early-passage
Wharton's
jelly-derived
mesenchymal
stem
cells
that
originate
at
umbilical
cord,
preclinical
studies
demonstrating
their
high
therapeutic
efficacy
DMD.
explored
tolerability
as
a
potential
treatment
option
Six
pediatric
participants
DMD
were
divided
into
two
subgroups
equal
size:
low-dose
(5.0×10⁵
cells/kg)
high-dose
(2.5×10⁶
cells/kg).
All
monitored
12
weeks
after
administration
assess
its
safety.
Dose-limiting
toxicity
(DLT)
evaluated
across
2
post
administration.
Exploratory
measuring
serum
creatine
kinase
levels,
functional
evaluations-including
spirometry,
myometry,
North
Star
Ambulatory
Assessment,
6-minute
walk
test-were
conducted
week
compared
baseline
values.
No
experienced
serious
adverse
events
related
injection
during
12-week
follow-up
period.
Mild
included
injection-related
local
erythema,
edema,
parosmia,
headache,
but
DLT
not
observed.
Functional
evaluations
revealed
no
significant
changes
from
baseline.
These
results
demonstrated
safe
well
tolerated
DMD,
did
cause
events.
The
could
be
confirmed
through
larger-scale
future
incorporate
repeated
dosing
have
randomized
controlled
design.
World Journal of Stem Cells,
Journal Year:
2025,
Volume and Issue:
17(2)
Published: Feb. 24, 2025
Skeletal
muscle
atrophy
results
from
disruptions
in
the
growth
and
metabolism
of
striated
muscle,
leading
to
a
reduction
or
loss
fibers.
This
condition
not
only
significantly
impacts
patients'
quality
life
but
also
imposes
substantial
socioeconomic
burdens.
The
complex
molecular
mechanisms
driving
skeletal
contribute
absence
effective
treatment
options.
Recent
advances
stem
cell
therapy
have
positioned
it
as
promising
approach
for
addressing
this
condition.
article
reviews
outlines
current
therapeutic
strategies,
focusing
on
mesenchymal
cells,
induced
pluripotent
their
derivatives.
Additionally,
challenges
these
cells
face
clinical
applications
are
discussed.
A
deeper
understanding
regenerative
potential
various
could
pave
way
breakthroughs
prevention
atrophy.
