1.
Summary
of
the
United
Kingdom
National
Workshop
on
Duchenne
Muscular
Dystrophy
Clinical
Trial
Capacity

2.
2
Organised
on
behalf
of
TREAT-­‐NMD
by
Dr
Annemieke
Aartsma-­‐Rus,
Chair
of
the
TREAT-­‐NMD
Alliance
Executive
Committee
Professor
Kate
Bushby,
Professor
of
Neuromuscular
Genetics
at
the
John
Walton
Muscular
Dystrophy
Research
Centre,
Newcastle
University
Dr
Stephen
Lynn,
TREAT-­‐NMD
Network
Project
Manager,
the
John
Walton
Muscular
Dystrophy
Research
Centre,
Newcastle
University
Gillian
Kenyon,
Clinical
trials
Co-­‐ordinator,
the
John
Walton
Muscular
Dystrophy
Research
Centre,
Newcastle
University
Kim
Down,
Duchenne
Muscular
Dystrophy
Co-­‐ordinator,
the
John
Walton
Muscular
Dystrophy
Research
Centre,
Newcastle
United
Kingdom
&
Ireland
Patient
Organisation
Participants:
Action
Duchenne
Alex’s
Wish
DMD
Pathfinders
Duchenne
Ireland
Duchenne
Now
Harrison’s
Fund
Joining
Jack
Join
our
Boys
Trust
Muscular
Dystrophy
UK
The
Duchenne
Children’s
Trust
The
Duchenne
Family
Support
Group
The
Duchenne
Research
Fund

3.
3
Table
of
Contents
Introduction
4
Workshop
Rationale
4
Clinical
trial
readiness
for
Duchenne
Muscular
Dystrophy
4
Current
Support
Received
from
Patient
Organisations
6
What
Does
it
Take
to
Run
a
Trial
for
DMD?
6
Clinical
Trial
Site
Perspective
6
Industry
Perspective
8
Session
One
Discussion
8
Service
Delivery
for
DMD:
Standards
of
Care
and
North
Star
Network
9
UK
North
Star
Clinical
Network
for
DMD
9
Physiotherapy
Perspective
10
How
Does
the
National
Institute
for
Health
Research
Support
TrialS?
11
Parent
Project
Muscular
Dystrophy:
A
US
Model
for
Capacity
Building
and
Supporting
Care
12
Session
Two
Discussion
13
The
Newcastle
Plan
14
Action
Timeline
15
In
Conclusion
15
Appendix
A
Ongoing
DMD
Studies
in
the
UK
with
Sites
and
Numbers
of
Participants
17
Appendix
B
Action
Plan
Template
19
Appendix
C
Working
Goup
Discussion
20
Appendix
D
Workshop
Summary
Feedback
23
Appendix
E
List
of
Workshop
Attendees
26
Tables:
Table
1
Sites
and
Numbers
of
Participants
for
Ongoing
DMD
Studies
in
the
UK
Images:
Image
1
Clinical
Trial
Timeline

4.
4
INTRODUCTION
WORKSHOP
RATIONALE
Patient
organisations
representing
Duchenne
muscular
dystrophy
(DMD)
are
concerned
about
the
apparent
lack
of
capacity
for
trials
in
DMD
in
the
UK.
“DMD
is
the
most
common
fatal
genetic
disorder
diagnosed
in
childhood,
affecting
approximately
1
in
every
3,500
live
male
births
(around
2500
people
have
DMD
in
the
UK).
Because
the
DMD
gene
is
found
on
the
X-­‐chromosome,
it
primarily
affects
boys
with
less
than
1%
of
those
with
Duchenne
being
female.
However,
it
occurs
across
all
races
and
cultures.
Duchenne
results
in
progressive
loss
of
strength
and
function
and
is
caused
by
a
mutation
in
the
gene
that
encodes
dystrophin.
Because
dystrophin
is
absent,
the
muscle
cells
are
easily
damaged.
The
progressive
muscle
weakness
leads
to
serious
medical
problems,
particularly
issues
relating
to
the
heart
and
lungs.”1
Clinicians
in
larger
centres
are
involved
in
multiple
DMD
studies
and
are
reaching
capacity,
while
smaller
centres
need
support
to
develop
their
clinical
trial
capacity.
The
workshop
brought
together
a
group
of
75
people
representing
patient
organisations,
clinical
staff
from
different
centres
as
well
as
representatives
from
the
National
Institute
for
Health
Research
(NIHR)
and
industry
both
to
assess
the
current
situation
and
to
develop
a
strategy
to
improve
capacity
and
better
utilise
resources.
These
representatives
met
in
Newcastle
on
the
10th
of
July,
2015
under
the
chairmanship
of
Annemieke
Aartsma-­‐Rus,
the
current
chair
of
the
TREAT-­‐NMD
Alliance.
CLINICAL
TRIAL
READINESS
FOR
DUCHENNE
MUSCULAR
DYSTROPHY
Emily
Crossley,
from
Duchenne
Children’s
Trust
eloquently
described
the
rationale
for
the
meeting
from
the
patient
perspective.
DMD
is
fatal
and
currently
there
is
only
one
approved
treatment
helping
a
small
sub-­‐group
of
boys
with
the
disease.
The
relentless
progression
of
the
disease
makes
the
urgent
need
for
drug
development
and
the
capacity
to
undertake
all
upcoming
trials
abundantly
clear.
Far
from
turning
away
trials
the
aim
of
the
entire
community
is
that
all
boys
and
1
Action
Duchenne.
What
is
Duchenne
Muscular
Dystrophy?
Available
at
<http://www.actionduchenne.org/what-­‐is-­‐duchenne-­‐muscular-­‐dsytrophy/>,
viewed
13
July
2015.

5.
5
men
with
DMD
are
part
of
a
trial,
be
it
therapeutic
or
part
of
a
natural
history
study.
Turning
away
clinical
trials
is
not
acceptable.
DMD
research
is
at
an
unprecedented
stage
in
terms
of
numbers
of
possible
therapies
coming
to
trials.
Supported
by
extensive
patient
registries,
work
on
outcome
measures
and
regulatory
interactions
led
by
TREAT-­‐NMD
and
other
groups,
multinational
studies
in
DMD
are
clearly
feasible.
National
efforts
have
been
supported
for
many
years
by
a
patient
registry
funded
by
Action
Duchenne
and
the
North
Star
network
supported
by
Muscular
Dystrophy
UK.
However,
to
date
involvement
of
trial
sites
in
the
UK
outside
the
main
centres
at
Newcastle
and
London
has
been
limited,
especially
in
industry
funded
studies.
See
Appendix
A
for
a
list
of
ongoing
DMD
studies
in
the
UK
and
table
1
with
totals
below.
Site
Studies
Participants
Birmingham*
2
8
Cambridge
1
0
Glasgow
1
8
Leeds
1
8
Liverpool*
3
20
London*
10
104
Manchester*
2
4
Newcastle*
8
75
Oxford*
1
3
Table
1
Sites
and
Numbers
of
Participants
for
Ongoing
DMD
Studies
in
the
UK
2
2
*Indicates
Industry
studies
are
taking
place
at
this
site.

6.
6
CURRENT
SUPPORT
RECEIVED
FROM
PATIENT
ORGANISATIONS
Patient
organisations
have
been
major
supporters
of
the
clinical
trial
infrastructure
in
DMD
for
many
years.
Patient
organisations
provide
a
great
deal
of
support
for
infrastructure
to
support
clinical
trials
and
communication.
The
following
are
examples
of
the
support
patient
organisations
in
the
United
Kingdom
currently
provide:
• Muscular
Dystrophy-­‐UK
funds
a
Clinical
Trials
Coordinator
in
Newcastle
and
London
(longstanding).
• Joining
Jack,
Action
Duchenne,
Duchenne
Now,
Duchenne
Children’s
Trust,
Duchenne
Research
Fund,
Harrison’s
Fund
and
Alex’s
Wish
fund
a
Clinical
Trial
Principal
Investigator
with
co-­‐funding
from
Newcastle
University
(from
July
1st
2015).
• Action
Duchenne:
DMD
patient
registry,
International
Duchenne
Conference,
Tripartite
funding
with
the
Chief
Scientific
Office
(Scotland)
and
MD-­‐UK
for
3-­‐year
Clinical
Research
Fellowship
(Dr
Shuko
Joseph
–
this
yet
to
be
formally
announced
by
the
CSO).
• Joining
Jack,
Duchenne
Children’s
Trust
and
Duchenne
Research
Fund:
fund
the
TREAT-­‐NMD
DMD
Programme
coordinator
(from
June
1st
2015).
• Action
Duchenne
fund
the
DMD
patient
registry
(longstanding).
• Muscular
Dystrophy-­‐UK
supports
the
North
Star
clinical
network
data
collection,
data
management
and
network
meetings
(longstanding).
The
support
of
Patient
Organisation’s
has
allowed
the
development
of
trial
capacity
in
the
centres
at
Newcastle
and
London
in
particular.
Both
centres
have
significant
research
income
which
also
underpins
their
trial
capacity.
WHAT
DOES
IT
TAKE
TO
RUN
A
TRIAL
FOR
DMD?
CLINICAL
TRIAL
SITE
PERSPECTIVE
Gillian
Kenyon,
Trial
Co-­‐ordinator,
The
John
Walton
Muscular
Dystrophy
Research
Centre
(JWC),
described
the
process
of
trial
set
up,
using
a
recent
example
from
a
Pfizer
funded
study.
The
JWC
centre
currently
has
8
DMD
trials
open
(along
with
a
number
of
non-­‐DMD
related
trials)
supported
by
two
full
time
trial
coordinators
and
one
part
time,
eight
doctors
who
contribute
to
clinical
trials,
four
physiotherapists
and
they
work
closely
with
the
Clinical
Research
Facility
(the
team

7.
7
includes
nurses,
trial
coordinators
and
data
managers)
where
the
trials
are
conducted.
The
study
team
at
Newcastle
is
supported
predominantly
via
University
and
grant
funding
streams.
Gillian
demonstrated
the
timelines
for
the
trial,
discussed
the
regulatory
hurdles,
and
clarified
the
process
of
setting
up
a
clinical
trial.
Image
1
Clinical
Trial
Timeline
Once
the
study
is
up
and
running
there
are
additional
requirements
which
take
time
and
resources
such
as:
• scheduling
of
appointments
within
study
window
and
liaison
with
patients
to
arrange;
• availability
of
nurses,
doctors,
physios;
• increase
in
trials
needs
more
admin
time;
• completion
of
eCRFs
and
data
entry;
• query
resolution;
• monitoring
visits;
• study
specific
amendments.

8.
8
INDUSTRY
PERSPECTIVE
Christine
Medhurst
from
Pfizer
provided
an
overview
of
the
perspective
of
an
industry
sponsor
in
site
selection
and
feasibility.
She
discussed
the
drug
development
process
and
product
development
timeline.
The
key
factors
that
industry
take
account
of
when
choosing
a
site
for
a
clinical
trial
is
the
selection
of
an
appropriate
investigator
and
the
resources
that
a
site
offers
(e.g.
study
required
equipment,
product
storage,
room
availability,
access
to
subjects
etc.).
Of
nine
sites
which
were
identified
in
the
UK
for
feasibility
for
a
DMD
study
only
two
were
selected.
The
others
were
not
selected
for
the
following
reasons:
• 2
Sites
did
not
meet
the
requirements
for
MRI.
• 1
Site
had
a
competing
study.
• 1
Site
declined
because
of
insufficient
resources.
• 1
Site
could
not
commit
to
recruit
3
patients.
• 1
Investigator
was
on
long
term
sick
leave.
• 1
Investigator
was
not
interested
to
participate.
The
current
DMD
study
status
for
this
study
is
that
globally
11
patients
have
been
recruited
and
if
the
proof
of
concept
study
is
positive
there
may
be
a
request
for
early
registration
of
the
drug.
Within
the
UK
the
NIHR
is
providing
excellent
support
and
the
UK
sites
are
open
to
recruitment,
with
Newcastle
recently
recruiting
the
first
European
patient.
Pfizer
will
fund
a
nursery
for
siblings
to
attend
during
study
visits
and
a
website
for
the
study
will
be
launched
to
keep
people
up
to
date
on
study
outcomes.
SESSION
ONE
DISCUSSION
The
discussion
following
these
presentations
centred
on
elements
of
support,
which
might
be
able
to
deliver
increased
trial
capacity
and
increase
the
attractiveness
of
UK
sites
to
industry.
In
essence,
the
steady
state
is
already
complicated
and
the
UK
does
not
have
the
capacity
for
currently
offered
studies
in
DMD.
We
are
also
facing
an
exponential
increase
in
trials
coming
online
for
which
we
are
manifestly
not
prepared.
Some
principal
investigators
and
other
site
staff
are
working
in
their
own
time
at
evenings
and
weekends
to
be
able
to
deliver
studies.
Research
and
Development
approvals
also
remain
a
bottleneck
in
the
UK:
in
the
Pfizer
study
presented,
there
was
a
time
lag
of
4
months
between
US
sites
being
ready
to
recruit
and
the
UK
due
to
R&D
delays.
Global
trials
are
set
up
on
a
competitive
basis.
If
there
are
no
UK
sites
that
have
capacity
and
can
respond
in
a
timely
manner
other
countries
will

9.
9
step
in.
If
companies
see
gaps
in
the
infrastructure
they
will
move
their
studies
to
other
countries.
A
major
issue
for
UK
sites
is
the
way
that
studies
are
funded.
There
is
little
flexibility
for
upfront
funding
from
industry
or
other
sources.
Here
funding
follows
recruitment,
leaving
no
possibility
to
put
staff
in
place
to
support
a
study
before
it
is
actually
up
and
running.
Centres
need
a
“credit
line”
that
they
can
draw
upon
which
would
also
ensure
continuity
(due
to
patchy
funding
experienced
staff
cannot
be
maintained).
Site
set
up
is
costly
and
this
cost
is
the
same
for
highly
complex,
low
recruiting
studies
in
rare
diseases
such
as
DMD
as
for
large
scale
studies
where
the
financial
benefits
on
successful
recruitment
of
large
patient
numbers
are
greater.
From
the
point
of
starting
trial
set
up
there
is
a
cost,
which
is
typically
not
funded
via
the
study
allocation.
These
elements
of
trial
set
up
have
been
greatly
facilitated
at
the
London
and
Newcastle
sites
with
Muscular
Dystrophy
UK
(MDUK)
funded
Trial
Coordinators
and
support
from
the
Medical
Research
Council
Neuromuscular
Centre.
At
the
end
of
trials,
patients
are
typically
offered
the
opportunity
to
participate
in
extension
studies.
This
adds
to
patient
numbers
at
the
sites
involved,
as
essentially
patients
never
come
to
the
end
of
studies;
this
in
turn
however,
adds
to
the
burden
for
those
site
teams.
Additional
data
on
long
term
effectiveness
of
drugs
will
require
a
systematic
investment
in
post
marketing
surveillance
efforts.
TREAT-­‐NMD
and
the
MDUK
funded
North
Star
network
are
hoping
that
a
Duchenne
specific
registry
will
be
able
to
fulfill
these
obligations,
in
line
with
recent
European
Medicines
Agency
(EMA)
advice
on
the
use
of
disease
registries
rather
than
registries
set
up
specifically
for
individual
drugs.
SERVICE
DELIVERY
FOR
DMD:
STANDARDS
OF
CARE
AND
NORTH
STAR
NETWORK
UK
NORTH
STAR
CLINICAL
NETWORK
FOR
DMD
Professor
Francesco
Muntoni,
Director
of
the
Dubowitz
Neuromuscular
Centre,
University
College
London
illustrated
the
effect
of
networking
via
the
UK
North
Star
Clinical
Network
for
DMD.
The
objectives
of
the
North
Star
network
are:
• To
develop
a
nationally
agreed
and
standardised
clinical
and
physiotherapy
assessment
protocol
to
monitor
change
in
DMD.

10.
10
• The
initial
focus
was
to
optimise
and
standardise
steroid
therapy
in
ambulant
boys
with
DMD.
• To
develop
a
national
clinical
database
for
a
large
cohort
of
patients
with
DMD
to
facilitate
clinical
audit
and
review.
The
network
consists
of
lead
consultants
and
senior
physiotherapists
from
17
paediatric
neuromuscular
centres
across
the
UK,
who
have
formally
‘signed
up’
to
the
project
and
3
or
4
others
who
continue
to
be
involved
through
meetings
and
email
distribution
lists.
Groups
of
staff
meet
on
a
regular
basis
to
discuss
best
management
and
to
formulate
guidelines
for
professionals
and
information
for
families.
Site
participation
is
voluntary
and
there
is
no
reimbursement
for
participation.
The
North
Star
network
developed
a
functional
assessment
scale
for
ambulatory
boys
with
DMD
and
maintains
a
database
of
patients.
The
North
Star
network
has
20
UK
neuromuscular
centres
within
its
network.
However,
it
faces
the
following
challenges:
• funding
insecurity
(year
on
year)
for
coordinator
and
Certus
(IT
provider);
• limited
supporting
infrastructure
in
NHS
clinics;
• discussion
with
NHS
England
to
consider
this
a
fundable
network
(like
renal
and
Cystic
Fibrosis)
not
productive
to
date;
• no
funding
to
individual
centres
for
facilitating
compliance
(medical;
physio;
coordination);
• lack
of
resources
to
collect
missing
data,
perform
accuracy
checks;
• the
above
is
an
obstacle
for
post-­‐marketing
surveillance;
• links
with
NHS
databases
for
forward
planning
and
alerting;
• non-­‐ambulant
DMD
individuals’
adoption.
PHYSIOTHERAPY
PERSPECTIVE
Anna
Mayhew,
Consultant
Physiotherapist,
The
John
Walton
Muscular
Dystrophy
Research
Centre,
summarised
the
physiotherapy
training
efforts
which
have
underpinned
the
network.
The
North
Star
network
offers
many
benefits
on
a
clinical
level
for
physiotherapists
ensuring
that:
• there
are
audits
able
to
be
carried
out;
• outcome
measures
are
linked
to
standards
of
care;
• physiotherapists
are
trained
in
standardized
clinical
assessments

11.
11
– e.g.
range
of
movement
and
NSAA.
The
network
also
brings
benefits
to
trial
readiness
including:
• outcomes
assess
eligibility
for
clinical
trials
(FVC,
NSAA
score,
ankle
ROM);
• giving
confidence
to
physiotherapists
taking
part
in
trials;
• linearization
of
the
NSAA
score
for
better
measurement
for
trials
(Mayhew
2013).
Again,
the
challenges
for
the
future
include
the
funding
required
to
introduce
a
new
physiotherapy
trainer
in
order
to
ensure
that
assessments,
standards
of
care
and
management
(orthotics,
respiratory)
are
standardised
across
sites
and
are
of
a
high
standard.
National
meetings,
online
training
and
a
training
hub
with
at
site
access
to
patients
are
all
areas
which
the
network
should
look
to
expand
within
if
funding
is
made
available.
Anna
also
discussed
the
current
research
focusing
on
the
development
of
validated
outcome
measures
for
the
non-­‐ambulant
DMD
population
and
adults
with
DMD.
• Non-­‐ambulant
groups
– Performance
of
Upper
Limb
– Myometry
– Patient
reported
outcome
measures
(PROMs)
• Adults
– Arm
and
trunk
function
– FVC
– PCF
– Contractures
– Quality
of
Life
These
lists
came
with
an
acknowledgement
that
there
is
more
work
to
be
done
on
standards
of
care
for
adults
in
order
to
facilitate
future
trial
readiness
in
this
population
group
as
well.
HOW
DOES
THE
NATIONAL
INSTITUTE
FOR
HEALTH
RESEARCH
SUPPORT
TRIALS?
Matt
Cooper,
Business
Development
and
Marketing
Director
from
the
National
Institute
for
Health
Research
(NIHR)
Clinical
Research
Network
(CRN)
summarised
the
success
of
the
NIHR
infrastructures
and
local
network
support
in
improving
trial
capacity
and
efficiency
in
England.
The
NIHR
CRN
has
research
active
clinicians
across
30
Specialties,
with
15
Local
Clinical
Research
Networks
(LCRNs)
allowing
for
flexible
deployment
of
resources.

12.
12
The
Clinical
Research
Network’s
activities
centre
on
the
NIHR
Clinical
Research
Network
(NIHR
CRN)
Portfolio.
The
portfolio
consists
of
clinical
research
studies
that
are
eligible
for
consideration
for
support
from
the
Clinical
Research
Network
in
England.
The
Portfolio
database
captures
research
activity
data
and
provides
analysis
tools
to
facilitate
active
management
of
current
studies,
and
the
feasibility
of
future
studies
run
within
the
Clinical
Research
Network.
All
of
the
DMD
studies
currently
ongoing
in
the
UK
are
on
the
NIHR
CRN
portfolio.
The
recent
re-­‐structuring
of
the
Clinical
Research
Network
has
resulted
in
the
creation
of
The
Children
Specialty
through
the
alignment
of
the
Medicines
for
Children
Research
Network
(MCRN)
and
the
Paediatric
(non-­‐medicines)
Specialty
Group
into
one
specialty
covering
children’s
research.
The
specialty
is
made
up
of
research-­‐interested
clinicians
and
practitioners
at
both
national
and
local
levels.
The
NIHR
CRN’s
job
is
to
ensure
that
studies
related
to
children
included
in
their
national
portfolio
of
research
receive
the
support
necessary
to
ensure
they
are
delivered
successfully
in
the
NHS.
PARENT
PROJECT
MUSCULAR
DYSTROPHY:
A
US
MODEL
FOR
CAPACITY
BUILDING
AND
SUPPORTING
CARE
Kathi
Kinnett,
Sr.
Vice
President
of
Clinical
Care
presented
Parent
Project
Muscular
Dystrophy’s
(PPMD,
USA)
efforts
in
building
Duchenne
research
capacity
and
supporting
care.
PPMD
has
been
engaged
in
efforts
to
identify
centers
capable
of
providing
standardized
comprehensive
Duchenne
care
in
agreement
with
the
guidelines
published
by
the
CDC
guidelines34
.
To
this
end,
they
have
created
the
Certified
Duchenne
Care
Center
Program.
The
goals
of
this
program
are
to
increase
patient
access
to
comprehensive
Duchenne
care
and
to
communicate
which
centers
are
capable
of
providing
that
level
of
care
to
all
stakeholders
in
the
Duchenne
community.
Clinical
trials
performed
at
these
centers
will
have
the
added
benefit
of
reduced
variation
in
clinical
trial
outcomes,
which
may
have
historically
been
attributed
to
variations
in
care.
The
program
to
date
has
identified
and
recognized
nine
Certified
Duchenne
Care
Centers
across
the
United
3
Bushby,
K.,
et
al.
(2010)
Diagnosis
and
management
of
Duchenne
muscular
dystrophy
part
1:
diagnosis,
and
pharmacological
and
psychosocial
management.
The
Lancet
Neurology.
9
(1),
pp.
77-­‐
93.
Available
at
<
http://dx.doi.org/10.1016/S1474-­‐4422(09)70271-­‐6>.
4
Bushby,
K.,
et
al.
(2010)
Diagnosis
and
management
of
Duchenne
muscular
dystrophy
part
2:implementation
of
multidisciplinary
care.
The
Lancet
Neurology.
9
(2),
pp.
177-­‐189.
Available
at
<http://dx.doi.org/10.1016/S1474-­‐4422(09)70272-­‐8>.

13.
13
States,
and
has
had
interest
in
certification
from
many
other
centers
both
in
the
US
and
globally.
The
certification
process
is
robust,
involving
the
gathering
of
application
surveys
from
interested
centers,
careful
evaluation
of
those
applications
by
the
program
coordinator
and
certification
committee,
performing
site
visits
to
potentially
appropriate
centers,
interviews
with
subspecialty
care
providers,
patient
chart
reviews,
and
review,
and
ultimate
decision
regarding
certification,
of
the
certification
committee.
If
a
center
is
granted
certification,
the
certification
is
good
for
five
years;
suggestions
and
recommendations
made
by
the
certification
committee
are
followed
up
annually.
Patient
reported
outcomes,
entered
by
patients
and
parents
in
DuchenneConnect
(PPMD’s
patient
reported
outcomes
data
base)
allows
for
evaluation
of
the
impact
of
care
on
primary
and
secondary
outcomes
of
disease
progression.
The
next
step
in
the
evolution
of
this
program
may
be
assessing
the
feasibility
of
building
a
formal
or
informal
clinical
trials
network.
PPMD’s
Drug
Development
Roundtable
(a
group
of
more
than
20
industry
representatives
with
interest
in
Duchenne
therapy
development
as
well
as
TREAT-­‐NMD
representation)
is
currently
beginning
work
to
identify
the
criteria
for
certification
as
a
Duchenne
clinical
trial
site.
Given
the
similar
goals
of
the
MDUK
centre
of
excellence
audit
and
the
PPMD’s
Certified
Duchenne
Care
Center,
DuchenneConnect
and
Drug
Development
Roundtable
initiatives,
there
is
a
clear
imperative
for
globally
sharing
and
harmonising
best
practices
in
both
building
Duchenne
research
capacity
and
supporting
care.
SESSION
TWO
DISCUSSION
In
the
discussion
following
session
one,
the
lack
of
data
on
adult
patients
was
highlighted
as
well
as
the
lack
of
adult
trials.
There
are
developments
within
the
North
Star
and
other
registries
in
this
area
and
new
outcome
measures
are
in
development.
Given
this
increase
in
knowledge,
the
next
step
should
be
engagement
of
industry
in
the
initiation
of
trials
in
older
patients,
once
regulators
are
in
agreement
that
these
outcome
measures
are
reliable
and
clinically
meaningful.
The
North
Star
network
has
generated
a
wealth
of
data
but
has
struggled
with
funding.
MDUK
remains
committed
to
its
support
and
development.
Needs
for
equipment
for
the
roll
out
of
non-­‐ambulant
measures
might
be
met
by
requests
to
industry
for
small
grants.

14.
14
NIHR
support
for
trials
has
concentrated
to
date
inevitably
on
common
diseases.
There
are
specific
elements
of
need
for
rare
disease
populations,
including
the
high
upfront
costs
for
small
patient
numbers
and
lack
of
capacity
of
specialised
doctors
and
physiotherapists.
One
model
to
explore
could
be
a
partnership
between
patient
organizations
and
NIHR
so
that
contracting
could
be
agreed
whereby
upfront
investment
from
Patient
Organisations
could
be
repaid
on
the
receipt
of
funding
for
patient
visits.
A
very
positive
opportunity
would
include
the
NIHR
brokering
this
model
as
well
as
possible
partnerships
with
industry.
Dr
Oliver
Rausch,
Programme
Director
of
the
NIHR
Translational
Research
Partnerships
made
the
point
that
the
Translational
Research
Collaboration
(TRC)
in
rare
diseases
could
have
an
impact
in
organisation
of
Rare
Disease
networks
engaged
in
clinical
research.
Initial
funding
has
concentrated
on
deep
phenotyping
but
ways
to
move
forward
with
these
initiatives
to
concentrate
also
on
capacity
issues
could
also
be
explored.
THE
NEWCASTLE
PLAN
Three
breakout
groups
(discussion
from
the
working
groups
is
outlined
in
Appendix
C)
discussed
a
series
of
questions
relating
to
the
presentations
during
the
day
and
an
action
plan
was
generated.
The
following
outlines
the
ideas
from
the
groups
in
the
form
of
a
one,
two
and
five
year
plan.
Overall,
the
meeting
concluded
that
the
UK
must
continue
to
be
one
of
the
key
“go
to”
countries
for
clinical
trials
in
DMD,
and
a
huge
willingness
was
clearly
demonstrated
from
all
parties
to
increase
capacity
and
maintain
and
improve
quality.
Three
phases
of
development
were
discussed,
to
be
taken
forward
by
a
working
group
derived
from
the
meeting
participants.
The
five
year
objective
should
be
to
ensure
that
all
patients
with
DMD,
children
and
adults,
have
access
to
clinical
research
opportunities.
An
action
plan
template
is
available
in
Appendix
B.
A
one
year
plan
would
aim
to
immediately
boost
capacity
at
existing
UK
centres
of
excellence,
so
that
no
more
trials
are
turned
away.
The
aim
is
for
posts
to
be
filled
within
the
next
6
-­‐
9
months.
A
two
year,
or
medium
term
plan
would
aim
to
build
excellence
and
capacity
at
existing
sites
that
have
trial
experience
but
need
resource.
The
aim
of
a
five
year
plan
is
to
ensure
that
all
patients
with
DMD,
including
children
and
adults,
have
access
to
clinical
research
opportunities.

15.
15
ACTION
TIMELINE
Year
One
(2015/16)
1. Convene
steering
group
&
patient
organisation
group.
2. Map
current
staffing,
training
and
equipment
requirements.
3. Explore
current
models
such
as
the
Trial
Acceleration
Programme,
epilepsy
surgery
model,
and
boost
support
for
current
networks
etc.
4. Increase
knowledge
sharing
through
developing
mechanisms
for
mentoring
and
sharing.
5. Explore
co-­‐funding
models
in
collaboration
with
NIHR,
industry
and
patient
organisations
(review
current
international
models,
proposals
and
other
initiatives).
6. Focus
on
trials
and
outcome
measures
for
adults.
7. Explore
closer
working
with
the
NIHR.
Years
2
–
3
(2017/2019)
1. Pilot
co-­‐funding
models.
2. Build
capacity
outside
the
main
sites
of
Newcastle
and
London.
3. Development
of
a
monitoring
and
feedback
mechanism
for
care
standards
in
sites.
4. Development
of
models
where
trial
activities
could
be
shared
between
sites
and
where
extension
studies
could
be
performed
in
centres
near
patients’
homes
(adult
developments
would
be
in
years
2-­‐5).
Year
Five
(2020)
1. Consolidation
of
a
DMD
Clinical
Research
Consortium
underpinning
a
clinical
trial
and
care
delivery
network
wherein
all
patients
with
DMD
are
offered
the
option
to
participate
in
clinical
research.
2. Enroll
every
patient
enrolled
on
the
register
and
in
a
trial,
be
it
therapeutic
or
as
part
of
a
natural
history
study.
IN
CONCLUSION
Overall,
the
meeting
concluded
that
the
UK
must
continue
to
be
one
of
the
key
“go
to”
countries
for
clinical
trials
in
DMD,
and
a
huge
willingness
was
clearly
demonstrated
from
all
parties
to
increase
capacity
and
maintain
and
improve
quality.

16.
16
Three
phases
of
development
were
discussed,
to
be
taken
forward
by
a
working
group
derived
from
the
meeting
participants.
The
five
year
objective
should
be
to
ensure
that
all
patients
with
DMD,
children
and
adults,
have
access
to
clinical
research
opportunities.
A
smaller
group
will
form
who
will
oversee
how
the
plan
takes
shape
over
its
lifetime.
This
group
will
look
at
a
summary
of
the
current
situation,
will
consider
a
map
of
resources
and
look
to
produce
a
publication
which
will
carry
more
weight
in
the
long
term.
The
patient
organisations
will
meet
to
ensure
that
the
funding
which
is
available
to
move
the
process
forward
can
be
identified
and
efforts
coordinated.
The
ongoing
MDUK
audit
will
also
be
extended
to
ensure
that
detailed
information
about
requirements
for
capacity
building
is
systematically
collected.
Additional
capacity
at
other
sites
will
need
to
be
addressed
for
both
children
and
adults.
Key
to
this
will
be
discussion
with
the
NIHR
to
maximize
the
mechanisms
for
DMD
research
as
a
paradigm
for
the
growing
field
of
rare
diseases.
This
will
require
a
way
to
match
the
existing
infrastructure
of
the
field
(including
the
North
Star
network
and
TREAT-­‐NMD)
with
the
resources
of
the
NIHR
and
the
ways
that
NHS
services
for
DMD
are
provided.
One
outcome
of
this
kind
of
collaboration
could
be
the
development
of
a
DMD
clinical
research
consortium
in
the
UK.
Collaborative
funding
models
including
pharma
and
patient
organizations
need
to
be
systematically
explored:
preferably
NIHR
brokered
with
the
possibility
for
reimbursement
to
patient
organisations
on
the
basis
of
income
generated
from
trials.
Moving
to
a
position
where
the
UK
position
in
trials
is
assured
would
add
extra
possibilities
including
the
ability
to
attract
and
retain
more
physios,
research
fellows,
nurses
and
trial
co-­‐ordinators.
The
development
of
models
where
trial
activities
could
be
shared
between
sites
and
where
extension
studies
could
be
performed
in
centres
closer
to
patients’
homes
could
begin
to
inform
protocol
development
once
there
was
confidence
in
the
overall
UK
approach.
“History
is
made
in
small
moments
of
time
–
opportunities
grasped
that
can
change
the
landscape
of
DMD
for
this
and
future
generations
of
children
diagnosed
with
DMD
for
the
better.
Let’s
make
this
one
of
those
moments.”
Emily
Crossley,
Founder
and
Director
of
Duchenne
Children’s
Trust
and
mother
of
Eli,
who
has
DMD.

17.
17
APPENDIX
A
ONGOING
DMD
STUDIES
IN
THE
UK
WITH
SITES
AND
NUMBERS
OF
PARTICIPANTS
Title
Sponsor
Sites
#
Recruited
A
study
of
corticosteroids
in
Duchenne
muscular
dystrophy
(FOR-­‐DMD)
National
Institutes
of
Health
Birmingham
Cambridge
Glasgow
Leeds
Liverpool
London
Manchester
Newcastle
6
0
8
8
6
5
2
8
A
double-­‐blind
randomised
multi-­‐centre,
placebo-­‐
controlled
trial
of
combined
ACE-­‐inhibitor
and
beta-­‐
blocker
therapy
in
preventing
the
development
of
cardiomyopathy
in
genetically
characterised
males
with
DMD
without
echo-­‐detectable
left
ventricular
dysfunction
(DMD
Heart
Protection
Study)
Newcastle
upon
Tyne
Hospitals
NHS
Foundation
Trust
Liverpool
London
Newcastle
10
46
26
Outcome
measures
in
Duchenne
Muscular
Dystrophy:
a
Natural
History
Study
French
Muscular
Dystrophy
Association
(AFM)
London
Newcastle
20
20
An
Open-­‐Label
study
for
previously
treated
Ataluren
(PTC
124®)
Patients
with
Nonsense
mutations
Dystrophinopathy
(PTC019)
PTC
Therapeutics
London
Newcastle
8
11
Prosensa
045:
A
phase
I/IIb,
open-­‐label,
escalating
dose
study
to
assess
the
safety
and
tolerability,
pharmacokinetics,
Prosensa
London
Newcastle
1
2

18.
18
pharmacodynamics
and
clinical
effects
of
multiple
subcutaneous
doses
of
PRO045
in
subjects
with
Duchenne
muscular
dystrophy
(Pro045)
A
phase
3
efficacy
and
safety
study
of
Ataluren
(PTC124)
in
patients
with
nonsense
mutation
dystrophinopathy
(PTC020
&
extension
study)
PTC
Therapeutics
London
Newcastle
7
4
A
Phase
I/II,
open-­‐label,
dose
escalating
with
48-­‐
week
treatment
study
to
assess
the
safety
and
tolerability,
pharmacokinetics,
pharmacodynamics
and
efficacy
of
PRO053
in
subjects
with
Duchenne
muscular
dystrophy
(Pro053)
Prosensa
London
Newcastle
1
1
A
2-­‐Part,
Randomized,
Double-­‐Blind,
Placebo-­‐
Controlled,
Dose-­‐Titration,
Safety,
Tolerability,
and
Pharmacokinetics
Study
(Part
1)
Followed
by
an
Open-­‐Label
Efficacy
and
Safety
Evaluation
(Part
2)
of
SRP-­‐4053
in
Patients
with
Duchenne
Muscular
Dystrophy
(DMD)
Amenable
to
Exon
53
Skipping.
(SKIP)
Sarepta
London
Newcastle
3
2
Phase
1b/2,
double-­‐blind,
placebo-­‐controlled,
within-­‐
subject,
dose
escalation
study
to
evaluate
the
safety,
efficacy,
pharmacokinetics
and
pharmcodymamics
of
PF-­‐06252616
administered
to
ambulatory
boys
with
Pfizer
Newcastle
1

19.
19
Duchenne
Muscular
Dystrophy.
A
Phase
1b
Placebo-­‐
controlled,
Multi-­‐centre,
Randomized,
Double-­‐blind
Dose
Escalation
Study
to
Evaluate
the
Pharmacokinetics
(PK)
and
Safety
of
SMT
C1100
in
Patients
With
Duchenne
Muscular
Dystrophy
(DMD)
Who
Follow
a
Balanced
Diet
SUMMIT
Birmingham
Liverpool
London
Manchester
2
4
4
2
A
Randomized,
Double-­‐
Blind,
Placebo-­‐Controlled,
Phase
3
Trial
of
Tadalafil
for
Duchenne
Muscular
Dystrophy
Eli
Lilly
Oxford
3
APPENDIX
B
ACTION
PLAN
TEMPLATE
Goal:
Form
a
Smaller
Group
to
oversee
how
the
plan
takes
shape
over
its
lifetime
Action
Step
What
needs
to
be
done?
Responsible
Person
Who
should
take
action
to
complete
this
step?
Deadline
When
should
this
step
be
completed?
Necessary
Resources
What
is
needed
in
order
to
complete
this
step?
Potential
Challenges
What
might
impede
completion
of
this
goal
and
how
will
it
be
overcome?
Result
Was
this
step
successfully
completed?
Were
any
new
steps
generated?
Find
interested
parties
Convene
Group

20.
20
Goal:
Patient
organisations
meeting
to
ensure
funding
needed
for
short
term
can
be
aggregated
Action
Step
What
needs
to
be
done?
Responsible
Person
Who
should
take
action
to
complete
this
step?
Deadline
When
should
this
step
be
completed?
Necessary
Resources
What
is
needed
in
order
to
complete
this
step?
Potential
Challenges
What
might
impede
completion
of
this
goal
and
how
will
it
be
overcome?
Result
Was
this
step
successfully
completed?
Were
any
new
steps
generated?
Find
date
for
meeting
in
September.
Kim
Down
17
July
Administration
Time
N/A
Sort
meeting
arrangements.
Kim
Down
28
August
Administration
Time
Venue
and
cost
of
meeting.
Conduct
meeting.
Kim
Down
TBC
Administration
Time
N/A
APPENDIX
C
WORKING
GOUP
DISCUSSION
WORKING
GROUP
ONE
Suggestions
from
working
group
one
included:
• Putting
in
resource
to
prevent
trials
being
turned
away
due
to
lack
of
capacity.
In
practice
this
will
most
likely
involve
investment
at
the
London
and
Newcastle
sites
and
the
other
sites
with
current
industry
studies
but
limited
additional
capacity.
• Training
and
capacity
must
be
enhanced
and
those
trained
in
Newcastle
and
London
should
in
turn
be
facilitated
able
to
train
people
in
other
centres
and
share
experiences.
• A
clinical
trial
capacity
road
show
should
be
held
so
that
other
sites
can
learn
from
Newcastle
and
London’s
experience.

21.
21
• Develop
a
mechanism
for
mentoring
and
sharing
of
experience
from
the
teams
at
Newcastle
and
London:
for
example
from
the
trial
co-­‐ordinators,
physio
teams
and
mentorship
of
young
doctors.
• Provide
the
equipment
and
support
required
to
allow
all
sites
to
develop
full
capacity
for
upper
limb
and
other
assessments
so
that
the
strengths
of
the
North
Star
network
can
be
fully
realized.
To
move
from
these
immediate
priorities
to
the
ultimate
aim
of
access
to
clinical
trials
for
all
patients
will
require
a
series
of
targeted
interventions
and
collaborations
to
be
established
and
deliver
over
the
intervening
4
years.
Additional
capacity
at
other
sites
will
need
to
be
addressed
for
both
children
and
adults.
Key
to
this
will
be
discussion
with
the
NIHR
to
maximize
the
mechanisms
for
DMD
research
as
a
paradigm
for
the
growing
field
of
rare
diseases.
This
will
require
a
way
to
match
the
existing
infrastructure
of
the
field
(including
the
North
Star
network
and
TREAT-­‐NMD)
with
the
resources
of
the
NIHR
and
the
ways
that
NHS
services
for
DMD
are
provided.
One
outcome
of
this
kind
of
collaboration
could
be
the
development
of
a
DMD
clinical
research
consortium
in
the
UK.
Collaborative
funding
models
including
industry
and
patient
organizations
need
to
be
systematically
explored:
preferably
NIHR
brokered
with
the
possibility
for
reimbursement
to
patient
organisations
on
the
basis
of
income
generated
from
trials.
Moving
to
a
position
where
the
UK
position
in
trials
is
assured
would
add
extra
possibilities
including
the
ability
to
attract
and
retain
more
physios,
research
fellows,
nurses
and
trial
co-­‐ordinators.
The
development
of
models
where
trial
activities
could
be
shared
between
sites
and
where
extension
studies
could
be
performed
in
centres
closer
to
patients’
homes
could
begin
to
inform
protocol
development
once
there
was
confidence
in
the
overall
UK
approach.
WORKING
GROUP
TWO
Lack
of
staff
remains
the
major
barrier
in
implementing
trial
capacity
across
sites.
This
includes
clinical
fellows,
paediatric
research
nurses,
physiotherapists
and
administrative
personnel.
Different
sites
require
varied
support
(generally
NHS
sites
are
more
in
need
of
clinical
fellows,
while
academic
sites
might
require
physiotherapists,
nurses
and
administrators).
Funding
for
staff
conducting
clinical
trials
is
an
issue.
Initiating
a
discussion
with
the
NIHR
on
this
is
essential
with
the
plan
to
have
matching
funding
between
NHS,
NIHR,
Charities
and
pharmaceutical
companies,
to
allow
payment
upfront
and
long

22.
22
term
(short
term,
trial
specific
posts
are
not
attractive
to
applicants
especially
where
contracts
are
continually
under
review).
There
could
be
de-­‐centralisation
of
some
study
procedures
(e.g.
drug
administration
and
safety
monitoring)
and
performing
efficacy
assessments
and
highly
specialised
procedures
centrally
would
enhance
trial
capacity.
This
has
been
done
for
one
study
(Prosensa/GlaxoSmithKline
with
home
dosing,
but
the
approval
system
required
more
than
12
months
to
be
in
place
so
such
arrangements
are
best
set
up
prospectively).
It
was
highlighted
that
research
should
be
part
of
the
training
requirements
for
doctors
so
we
can
prepare
the
next
generation
of
trial
doctors
and
other
specialists.
Good
research
requires
maintaining
high
standards
of
care
and
outcome
measures
(e.g.
physiotherapist
training
and
the
North
Star
Ambulatory
Assessment
database).
It
may
be
useful
to
discuss
merging
the
North
Star
and
UK
DMD
registries
if
funding
is
secured
from
the
NHS.
There
is
also
urgent
need
of
clinical
trials
in
non-­‐ambulatory
patients.
Suggestions
for
working
group
two
included:
• Start
interaction
with
the
commissioning
to
ensure
that
research
is
a
service
specification
for
all
neuroscience
centres.
This
will
allow
us
to
monitor
them
against
this
target.
Research
should
be
therefore
added
in
the
document
currently
under
review
regarding
service
specification
for
neuromuscular
centres
and
should
be
added
in
NICE
guidelines.
• Produce
a
map
with
specific
staff
requirements
for
each
UK
site.
A
questionnaire
to
be
produced
and
circulate
asking
which
staff
is
required
at
each
site
to
increase
trial
capacity.
• Initiate
a
discussion
with
NIHR
regarding
funding
and
the
possibility
of
a
system
of
matching
funding
within
R&D,
NIHR,
charities
and
pharmaceutical
companies,
to
allow
payment
upfront
and
long
term.
• Start
discussion
with
NIHR
how
to
facilitate
collaborations
with
different
R&D
departments
to
speed
regulatory
approvals
for
satellite
sites.
• Discuss
with
Helen
Roper
how
to
ensure
that
research
can
be
added
in
the
training
program
for
specialists
through
the
BPNA.
Consider
the
possibility
of
a
“core
team”
from
the
specialised
centres
(Newcastle
and
London)
to
provide
training
to
other
sites
(physiotherapy,
trial
coordinators,
nurses,
clinicians).
• Charities
(MDUK)
to
implement/improve
funding
for
the
NSAA
–
as
discussed
during
the
workshop.

23.
23
• Encourage
pharmaceutical
companies
to
design
studies
for
non-­‐
ambulant
population
using
the
scales
currently
available
(respiratory
and
cardiac
function,
PUL,
PROMM).
WORKING
GROUP
THREE
There
was
agreement
within
the
groups
that
the
UK
can
provide
plenty
of
experience
for
research
studies,
that
there
is
expertise,
numbers
for
trials
and
willingness
to
participate.
Although
there
was
also
recognition
that
trial
capacity
was
limited.
It
was
suggested
that
a
large
number
of
research
centres
would
not
work
in
the
UK
but
that
they
should
potentially
increase
to
5
centres
of
excellence.
Funding
for
these
centres
could
benefit
from
a
combined
approach
between
charity,
industry
and
the
NIHR,
brokered
by
the
NIHR.
Some
doubts
regarding
this
approach
were
expressed
by
industry
who
felt
that
there
may
be
an
issue
with
regards
to
funding
sites
which
may
be
used
for
rival
company’s
studies;
however,
there
may
be
solutions
to
this
issue.
There
was
also
the
idea
expressed
that
costs
could
also
be
saved
through
sites
having
a
more
group
approach
(for
example
between
CRF’s)
where
staff
or
facilities
could
be
shared.
The
need
to
ensure
that
care
standards
in
sites
are
monitored
through
some
mechanism
was
also
raised.
APPENDIX
D
WORKSHOP
SUMMARY
FEEDBACK
Comments
from
Matt
Cooper,
National
Institute
for
Health
Research
(NIHR):
The
NIRH
portfolio
supports
both
rare
disease
and
common
disease
studies
but
as
there
are
more
common
disease
studies
so
the
proportion
of
funding
given
over
to
support
those
common
diseases
is
larger.
Regarding
Action
Timeline:
Year
One
Action
Two
–
• Produce
a
'site
CV'
documenting
the
capacity
and
capability
to
conduct
DMD
research
and
act
as
a
promotional
tool
to
engage
life
sciences
companies
to
place
studies.
• How
does
this
link
to
areas
of
excellent
service
provision?

24.
24
• Make
service
provision
and
research
opportunity
seamless
-­‐
link
to
ongoing
audit.
• Use
patient
organisations
to
lobby
for
better
service
provision
with
the
research
part
of
the
patient
journey.
Year
One
Action
Five
–
• Map
out
all
of
the
global
life
sciences
companies
engaged
in
product
development
in
DMD.
Year
One
Action
Seven
–
• Develop
the
patient
organisation’s
understanding
of
the
NIHR
infrastructure
and
funding
routes.
Comments
from
Action
Duchenne:
First
of
all
Action
Duchenne
would
like
to
thank
you
for
the
comprehensive
nature
of
this
report
and
the
detailed
summation
of
discussions
from
the
meeting
in
Newcastle
on
July
10th
2015.
We
are
furthermore
broadly
supportive
of
the
conclusions
drawn,
and
the
directional
strategy
posited
within
the
Newcastle
Plan.
We
welcome
the
opportunity
however;
to
push
for
further
specificity
within
the
Action
Timeline
designed
to
underpin
the
achievement
of
clinical
research
opportunities
for
all
DMD
patients
within
five
years.
• It
will
be
important
to
tie
the
emergency
funding
measures,
taken
within
the
initial
year,
to
an
overarching
and
sustainable
model
centred
upon
the
needs
of
industry
and
the
research
pipeline
for
DMD.
There
should
be
no
disconnection.
• This
will
necessitate
a
holistic
appraisal
of
existing
Phase
1,
2
&
3
studies
along
with
the
broader
research
pipeline
and
direction
of
travel.
If
our
initial
and
primary
short-­‐term
concern
should
be
that
the
UK
is
‘open
for
business’
and
doesn’t
turn
down
clinical
trials,
this
has
to
be
our
starting
point,
and
will
in
turn,
determine
what
posts/infrastructure/equipment
needs
to
be
funded,
at
what
centres,
by
the
patient
organisations
in
the
first
year.
• Secondly,
whilst
we
acknowledge
and
support
the
short-­‐term
commitment
to
‘Explore
closer
work
with
the
NIHR’,
this
strategy
needs
to
be
fleshed
out
more
sufficiently
to
explore
how
to
bring
in
the
necessary
additional
stakeholders
(NHS
England,
APBI
etc.)
who
will
be
integral
to
ensuring
continuity
of
funding
in
the
longer
term.
This
will,
to
some
extent,
be
dependent
on
our
success
in
formulating
a
persuasive
narrative
around
NHS
England
and
NIHR
responsibility
for
rarer
conditions
and
the
importance
of
Life
Sciences
to
the
UK
economy
etc.

25.
25
• Thirdly,
while
we
support
the
intention
to
proliferate
capacity
development
beyond
the
main
sites
of
Newcastle
and
London
within
the
2-­‐3
year
strategy,
this
should
in
no
way
preclude
the
possibility
for
this
to
begin
within
the
opening
year,
if
indeed
such
developments
are
congruent
with
the
research
pipeline
and
needs
of
industry
within
the
immediate
short
term.
• On
the
question
of
building
capacity
outside
the
main
existing
sites,
there
needs
to
be
a
recognition
and
understanding
of
why
this
is
crucial
to
the
Newcastle
Plan’s
ultimate
aim.
Indeed,
whilst
such
developments
should
be
made
if
they
are
consistent
with
the
needs
of
industry
and
the
ability
of
the
UK
to
host
all
prospective
clinical
trials
possible,
we
need
also
to
consider
the
question
of
patient
accessibility
to
trials
from
a
geographical
perspective.
As
a
long
term
objective
it
should
not
be
unachievable
for
the
majority
of
Duchenne
patients
to
have
access
to
clinical
research
opportunities
within
approximately
two
hours
travelling
distance
of
their
home.
• Whilst
we
welcome
the
commitment
to
boost
clinical
trial
opportunities
and
accessibility
for
the
adult
population
living
with
Duchenne,
we
need
to
tackle
an
overreliance
upon
Queens
Square
and
formulate
a
coherent
and
measurable
long
term
plan
that
begins
in
the
first
year.
• Mapping
the
Duchenne
pipeline
to
its
current
and
future
needs
is
integral
to
the
high
level
plan;
in
doing
so
this
may
mean
that
the
satellite
centres
can
develop
and
support
the
current
centres
of
excellence,
in
the
short-­‐
term.
• Young
men
and
adults
living
with
Duchenne
and
their
clinical
needs
are
also
integral
in
the
emergency
plan
and
beyond.
Comments
from
Kerry
Rosenfeld
Co-­‐founder
of
the
Duchenne
Research
Fund:
It
would
be
helpful
to
explore
the
possibility
of
collaboration
with
other
neuromuscular
charities/organisations,
to
see
how
we
could
jointly
fund
machinery/technicians
that
would
benefit
many
trials
across
different
muscular
issues.
That
way
more
machinery
and
staff
would
be
in
use
constantly,
and
the
expense
is
more
justifiable.
I
realise
these
sorts
of
machines
cost
a
fortune
to
buy
and
maintain.
MRI
machines,
a
big
issue
in
past
trials,
would
need
to
be
in
use
every
day
to
be
cost
effective
so
the
expense
could
be
potentially
be
shared
with
departments
with
people
with
general
muscle
problems
not
just
rare
diseases.
Comments
from
DMD
Pathfinders:
“DMD
Pathfinders
has
not
to
date
contributed
to
the
funding
of
clinical
trials
for
Duchenne
but
through
being
present
at
the
National
Workshop
on
Duchenne

26.
26
Muscular
Dystrophy
Clinical
Trial
Capacity
workshop
have
represented
the
voice
of
increasing
numbers
of
adults
with
Duchenne
on
the
issue
of
clinical
trials.
DMD
Pathfinders
will
continue
to
make
contributions
to
discussions
on
the
clinical
trials
applicable
to
adults
with
Duchenne
and
to
support
the
design
and
implementation
of
these
in
any
way
they
can.”
APPENDIX
E
LIST
OF
WORKSHOP
ATTENDEES
Name
Organisation
Annemieke
Aartsma-­‐Rus
Leiden
University
Medical
Center
Gautam
Ambegaonkar
Addenbrookes
Hospital,
Cambridge
Julie
Anderson
Great
North
Children's
Hospital
Jayne
Banks
Newcastle
NHS
Trust
Peter
Baxter
Sheffield
Children’s
Hospital
Marta
Bertoli
John
Walton
Medical
Research
Centre,
Newcastle
University
Michael
Binks
Pfizer
Louise
Bishop
Duchenne
Children’s
Trust
Nic
Bungay
Muscular
Dystrophy
United
Kingdom
Kate
Bushby
John
Walton
Medical
Research
Centre,
Newcastle
University
Jordan
Butler
University
College
London
Jonathan
Calthrop
PA
for
Mark
Chapman
Saleel
Chandratre
Oxford
University
Hospitals
NHS
Trust
Mark
Chapman
DMD
Pathfinders
Charlotte
Chapman
Bristol-­‐Myers
Squibb
Lawrence
Charnas
Parent
Project
Muscular
Dystrophy
Michelle
Cioffi
Summit
Therapeutics
Janis
Clayton
PTC
Therapeutics
Matt
Cooper
NIHR
CRN
Coordinating
Centre
Emily
Crossley
Duchenne
Children's
Trust
Damian
Culhane
Parent
Becky
Davis
John
Walton
Medical
Research
Centre,
Newcastle
University
Marina
Di
Marco
National
Health
Service,
Scotland
Celeste
Di
Johnson
Sarepta
Therapeutics
Kim
Down
John
Walton
Medical
Research
Centre,
Newcastle
University
Jennifer
Dunne
Neuromuscular
Clinical
Nurse
Specialist,
Scotland
Paul
Fitzpatrick
Duchenne
Now
Aidan
Gill
PTC
Therapeutics
Vasantha
Gowda
Evelina
London
Children's
Hospital
Katie
Groves
Great
Ormond
Street
Hospital

27.
27
Michael
Hanna
Institute
of
Neurology,
University
College
London
Imelda
Hughes
Royal
Manchester
Children's
Hospital
Paul
Humphrey
Biomarin
Meredith
James
John
Walton
Medical
Research
Centre,
Newcastle
University
Anne
Jeffers
Join
Our
Boys
Trust
Alexandra
Johnson
Joining
Jack
Kathi
Kinnett
Parent
Project
Muscular
Dystrophy
Gillian
Kenyon
John
Walton
Medical
Research
Centre,
Newcastle
University
Paula
Naughton
Join
Our
Boys
Trust
Stephen
Lynn
John
Walton
Medical
Research
Centre,
Newcastle
University
Anirban
Majumdar
University
Hospital
Bristol
Anna
Mayhew
John
Walton
Medical
Research
Centre,
Newcastle
University
Janet
McCay
South
West
Neuromuscular
ODN
Heather
McMurchie
Heart
of
England,
National
Health
Service
Trust
Robert
Meadowcroft
Muscular
Dystrophy
United
Kingdom
Christine
Medhurst
Pfizer
Sharon
Moran
Tallaght
Hospital,
Dublin
Ireland
Francesco
Muntoni
Institute
of
Child
Health,
University
College
London
Hattie
Murdock
Newcastle
University
Marita
Pohlschmidt
Muscular
Dystrophy
United
Kingdom
Richard
Pye
Summit
Therapeutics
Oliver
Rausch
National
Institute
for
Health
Research
Office
for
Clinical
Research
Infrastructure,
National
Institute
for
Health
Research
Aaron
Revel
Action
Duchenne
Dionne
Reynolds
Clinical
Research
Facility
–
Royal
Victoria
Infirmary,
Newcastle
Diana
Ribiero
Action
Duchenne
Valeria
Ricotti
Institute
of
Child
Health,
University
College
London
Vici
Richardson
Duchenne
Now
Alasdair
Robertson
Duchenne
Children’s
Trust
Eric
Romero
PA
to
Mark
Chapman
Kerry
Rosenfeld
Duchenne
Research
Fund
Joel
Schneider
SOLID
Biosciences
Alex
Smith
Harrison's
Fund
Stefan
Spinty
Alder
Hey
Children's
Hospital,
Liverpool
Katherine
Tanney
Newcastle
upon
Tyne
Hospitals
NHS
Foundation
Trust
Cathy
Turner
John
Walton
Medical
Research
Centre,

28.
28
Newcastle
University
Edith
van
Dijkman
Biomarin
Olav
Veldhuizen
John
Walton
Medical
Research
Centre,
Newcastle
University
Thomas
Voit
Institute
of
Myology
Katherine
Wedell
Action
Duchenne
Fiona
Yelnoorkar
National
Institute
for
Health
Research