Strategic
Directions
for the Next
Action Plan to
End Duchenne
A Parent Project Muscular Dystrophy Report &
Recommendations from the One Voice Summit
Introduction
for patients and families that seemed
far away when the legislation was
introduced a decade ago, such as:
• Government and private sector
funding for Duchenne research
has grown sharply, with nearly
$200 million in NIH and CDC
funding helping leverage private
resources and yielding significant
milestones.
• Multiple drugs and biologics are
in varying phases of the discovery pipeline, including the critical
phase III trial stage.
Matthew, 19 years old, and Patrick, 16 years old
Ten years ago, landmark muscular
dystrophy legislation was introduced
in Congress. At the time the bill – the
Muscular Dystrophy Community Assistance, Research, and Education
Amendments (MD-CARE Act) – was
unveiled few bright spots existed for
patients and families battling Duchenne. Federal research for Duchenne and other forms of muscular
dystrophy was minimal, surveillance
and data collection was non-existent,
and the federal government lacked
a comprehensive muscular dystrophy research and care agenda. The
MD-CARE Act forever changed this
landscape.
The law created what are now six research Centers of Excellence – named
1
after the late Sen. Paul Wellstone –
funded by the National Institutes
of Health (NIH). It launched a data
collection and surveillance program
at the Centers for Disease Control
and Prevention (CDC). The law also
created the Muscular Dystrophy Coordinating Committee (MDCC) to
unite all relevant government and
patient voices to develop an aggressive, milestone-driven action plan for
all the muscular dystrophies. None
of this would have been possible
without the passionate, persistent,
and informed advocacy of the entire
Duchenne community with a dedicated group of congressional champions. The tangible benefits from
the MD-CARE Act are profound and
have brought about improvements
• Early and correct diagnoses and
evidence-based care standards
mean more patients are receiving timely and improved care
and more families benefit from
genetic counseling.
• Advances in adaptive and communication technologies permit
patients to live more engaged
and connected lives.
• Life expectancy for individuals with Duchenne, once barely
reaching the early 20s, now commonly extends into the early 30s.
Despite these successes, many challenges remain to be conquered, and
we cannot afford to wait another
decade to do so. Recognizing this
sense of urgency, the Duchenne
community gathered in Washington,
DC on February 14, 2011 – ten years
Strategic Directions for the Next Action Plan to End Duchenne - Published April 2011 - Parent Project Muscular Dystrophy
Introduction
to the day since the MD-CARE Act
was introduced in Congress – to participate in the landmark One Voice
Summit organized by Parent Project
Muscular Dystrophy. The One Voice
Summit brought together panels
of experts in biomedical research,
public health, care-giving, and
therapy development to explore the
major challenges that loom ahead
and how the community believes
they must be addressed.
Joining nearly 30 panelists were more
than 120 members of the Duchenne
community – patients, parents, siblings, grandparents, clinicians, researchers, industry, academia, public
health, and others – all of whom had
the opportunity to offer their ideas
and perspectives. The purpose of
the Summit was to examine progress
against the goals of the first Action
Plan for the Muscular Dystrophies
and to gather input from the entire
Duchenne community as to priorities for the next version of this plan,
which is scheduled to be prepared
later this year.
This report summarizes the key findings of the Summit. It also includes
specific recommendations for consideration as the next version of the
action plan is developed. These
recommendations were developed
by PPMD and informed largely by
the Summit proceeding. Participants in the Summit representing
Federal agencies were not involved
in shaping these recommendations.
The recommendations are organized
under the following five target areas:
why not. While other issues beyond
those included in this report were
raised in the Summit, this document seeks to organize the agenda
by focusing on the highest priority
matters. As time progresses, new
issues and challenges can be added
and those which are addressed can
be removed.
• Early Diagnosis
• Clinical Care
• Biomedical Research
• Regulatory Approval and
Commercialization
• Supporting Adolescents and
Adults with Duchenne
“There are steps we need
to take as a community to
make sure that we can end
Duchenne, that we can stop
it in its tracks for every single
boy wherever he is around
the globe, at whatever progression he is: to stop it and
preserve his health and one
day soon, hopefully, maybe
even reverse it.”
This document also will inform the
development of a report card for
the muscular dystrophy community
to measure progress toward these
goals. When these goals are met, we
must celebrate and move forward.
When goals are not met, we must ask
Ultimately, in the words of PPMD
Founding President and CEO Pat
Furlong --
2
Executive Summary:
Recommendations from the Duchenne
Community for the Next Action Plan
Improving Early and Accurate Diagnosis
• CDC should convene a follow-up conference on newborn
screening.
• CDC should consider expanding their current Duchenne
newborn screening programs.
• The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children should give further
consideration to its criteria/nominating process for formal
consideration of newborn screening of heritable disorders.
Enhancing Clinical Care
• CDC should assemble a second international body of
Duchenne experts to examine and disseminate the Care
Considerations, produce new or updated recommendations, and possibly remove outdated ones.
• CDC should implement an online training series to educate
clinicians about the Care Considerations.
• NIH should provide funding for natural history and similar
studies that examine the efficacy of certain care standards.
Accelerating the Duchenne Biomedical
Research Pipeline
• Establish a national Duchenne/rare disease clinical registry
to be integrated with DuchenneConnect.
Advancing Regulatory Reform and
Commercialization
• Establish a central database or repository of all past,
present, and planned Duchenne clinical trials and studies.
• Achieve community-wide agreement as to outcomes and
metrics to consider in evaluating efficacy of a treatment.
• Provide greater parent/patient engagement within clinical
trials, particularly regarding acceptable levels of risk.
• Foster a dialogue between the Duchenne Community
and FDA regarding benefit/risk levels.
• Produce a joint FDA/Reagan-Udall Foundation or Critical
Path Institute plan of action to address personalized
medicines, combination therapies, and greater coordination
with EMA.
Supporting Adolescent and Adults with
Duchenne
• CDC should develop corresponding set of Care
Considerations for adults with Duchenne.
• Pursue, with other stakeholder organizations, policy
reform laws that will improve the lives of adults living
with Duchenne.
• Implement a program to both identify predictors of and
improve the wellbeing of adults with Duchenne.
• NIH should leverage funding mechanisms with a focus
on translational initiatives.
• NIH should establish mechanisms for enhancing and
expanding the Wellstone Centers.
3
Strategic Directions for the Next Action Plan to End Duchenne - Published April 2011 - Parent Project Muscular Dystrophy
Improving Early &
Accurate Diagnosis
Charlie, 11 years old
Access to early and accurate diagnosis of Duchenne is a major issue of
concern for the community. Individuals
with Duchenne are often not diagnosed
until ages three to five, and sometimes
even much later depending on regional
variations in care. Compounding the
problem further are incorrect diagnoses that can exacerbate the problem
and cause lasting damages. As Chuck
Riesebeck, of North Carolina, father of
11-year-old Charlie noted at the One
Voice Summit, “Parents are often told
that their son will grow out of it or just
to wait and see. Numerous physicians
are often consulted before a diagnosis
is made. This process is referred to as
the diagnostic odyssey and it’s costly in
terms of time, stress, frustration, healthcare provider visits, etc., so just one
potential benefit of newborn screening for DMD is to avoid the diagnostic
odyssey,” Riesebeck said.
Infants and children in disadvantaged
settings, both rural and urban, often
receive care solely through community
health centers, which are commonly understaffed and underfunded. For these
children, diagnosis is often delayed even
longer and at a more perilous cost. To
help address delayed diagnosis, CDC
has been supporting a task force involving PPMD, the American Academy of Pediatrics, and others, to educate providers
about the early signs of muscle weakness
so that diagnosis and interventions can
begin at the earliest possible stages.
Newborn Screening
Riesebeck noted that the most common
argument against newborn screening
is the lack of an early intervention that
could lead to improved outcomes. But
he believes the latest Care Considerations and other knowledge gains have
set the stage for a re-consideration of
Duchenne as a potential target for
newborn or infant screening. “There
should now be the realization that
there are things that should be done
or avoided early on that will improve
the medical outcome of individuals with
Duchenne.” Parent Catherine Collins, of
New York, mother of 5 year-old Dylan,
reinforced this point through her own
experience. “The amount of damage
we did to Dylan by intensive physical
therapy, trampolines, up and down stairs
as much as possible; that really did a lot
of harm to him. If there’s something so
simple as a pretty quick blood test, that
would be really helpful.”
Dr. Jerry Mendell, Director of the Center
for Gene Therapy at Nationwide Children’s Hospital in Columbus, Ohio noted
challenges associated with newborn
screening, including the need for follow-up DNA testing (costs approaching
$1,000 per test) and lack of treatments
beyond steroids. “I think we can look
forward to that time point when we can
implement newborn screening throughout the country and the model that we
set up will make that possible. But on
the other hand, one of our challenges is
that the newborn screening community
and the newborn screening board will
probably not let newborn screening go
forward until we have some success in
treatment beyond steroids,” Mendell
4
Improving Early & Accurate Diagnosis
said. Though Duchenne currently does
not meet all of the criteria set out for
disorders for which newborn screening
should be available, scientific evidence
suggests therapeutic interventions are
most effective when applied at the earliest possible stage, and the continued
discovery and advancement of promising therapies will further underscore the
need for early diagnosis and intervention. The Duchenne community should
be involved in discussions of the benefits
of early diagnosis versus the potential
emotional burden placed on parents
who learn that a newborn has a disorder
for which a preventative treatment is
available.
Genetic Counseling
Newborn screening cannot be implemented without a well-developed plan
to provide genetic counseling to affected families and, genetic counseling must
be included in any effective newborn
screening initiative. Families receiving
the diagnosis of muscular dystrophy will
need support and guidance as they face
the implications of genetic diagnosis
and consider next steps. A successful
genetic testing initiative will need to
inform and educate families on a host
of issues (etioloy and risk, testing results,
carrier testing, and, potentially, prenatal
diagnosis). Also of utmost importance
in a counseling regimen will be risk assessment and decision making support
for subsequent pregnancies.
Recommended Action Items
• CDC should convene a follow-up conference on newborn
screening. It will focus specifically on improvements in diagnosis and treatment since the March 2004 meeting and
examine existing gaps in knowledge to evaluate if and when
newborn screening for Duchenne would be in the community’s best interest.
• CDC, with other partners, should consider expanding their
current Duchenne newborn screening programs past the
current pilots at Emory and Ohio State Universities.
• The Secretary’s Advisory Committee on Heritable Disorders
in Newborns and Children should give further consideration
to its criteria/nominating process for formal consideration of
newborn screening of heritable disorders. Specifically, this
would explore potential modifications to how treatments and
interventions are defined and how their impacts are determined.
“Parents are often told that their son will grow out of it or just to
wait and see. Numerous physicians are often consulted before a
diagnosis is made. This process is referred to as the diagnostic
odyssey and it’s costly in terms of time, stress, frustration,
healthcare provider visits, etc., so just one potential benefit of
newborn screening for DMD is to avoid the diagnostic odyssey.”
–Chuck Riesebeck
Father of Charlie, 11 years old
[1] Bushby et al., 2010. Diagnosis and management of Duchenne muscular dystrophy,. Lancet Neurol. 9(1):77-93.
5
Strategic Directions for the Next Action Plan to End Duchenne - Published April 2011 - Parent Project Muscular Dystrophy
Enhancing
Clinical Care
implementation. Best practice and standards of care should be available for
all individuals, not just those who have
the good luck of geography,” Castle
said. Other advocates including parent
Anessa Fehsenfeld of Grand Rapids,
Michigan and patient Conrad Reynoldson of Seattle, Washington echoed
Castle’s concerns. Fehsenfeld noted the
need for regularly updating the Care
Considerations, and Reynoldson spoke
of the gaping void that exists in care
standards for adults, like him, who are
living with Duchenne.
Anthony, 9 years old
Improvements in care, particularly pulmonary and cardiac care and use of steroids, has led to increased longevity and
improved health outcomes for patients
with Duchenne. Despite these gains and
significant public health and peer education initiatives, gaping holes remain
in ensuring delivery of evidence-based
care to all individuals with Duchenne.
“Care is still highly variable across this
country and certainly across the globe.
The Care Considerations from the CDC
have been published in the Lancet1 last
year. We have a platform to say, ‘This
is what care is supposed to look like.’
It’s not absolutely everything we need
because care is dynamic and we must
be proactive, continually updating and
addressing gaps in care,” Furlong said.
Update, Disseminate, and Use
Care Considerations
Beyond publication of the Care Considerations, CDC has been working with
PPMD, the Muscular Dystrophy Association (MDA), TREAT-NMD, and others to
develop and disseminate materials to
educate primary care providers, physical
therapists, educators, and others about
the early warning signs of Duchenne.
As parent Jill Ann Castle from Arizona
noted, publishing standards of care does
little good unless they are disseminated
and used by providers. “Setting these
standards has changed the face of
Duchenne, and for that, we are incredibly grateful. However, we don’t have
real consistency until there is a system
of dissemination and a monitoring of
All individuals with Duchenne deserve
care matching that described within the
Care Considerations. The Care Considerations need to be disseminated widely
among providers, and application or
earlier application of the Considerations
by providers must increase. There is also
room for improvement among the Considerations, including additional areas
that need to be addressed. Further consideration by the CDC and its partners
would only serve to improve the Care
Considerations.
Dr. Katie Bushby of TREAT-NMD, who
played a major role in developing and
publishing the Care Considerations,
also noted the need to disseminate and
implement the measures. She spoke
of the need for additional information,
including natural history data, to fill in
gaps, particularly regarding rehabilitation recommendations, to ensure the
Considerations are as up-to-date as
possible. And Bushby wants to see
greater levels of overall collaboration
to ensure any patient or family receives
evidence-based and high-quality care.
Additionally on the domestic front, it
was noted that the Muscular Dystrophy
Association is evaluating its entire clinic
6
Enhancing Clinical Care
structure in the hopes of developing
centers of excellence for the treatment of
muscular dystrophy. To help update and
disseminate the Care Considerations,
Dr. Mark Swanson of the CDC said the
agency hopes to push for greater dissemination and implementation along
with greater coordination between care
standards and surveillance through the
MD STARnet project.
The use of the Care Considerations
extends to the clinical trial setting, as
well. Standards of care reduce the variability of results in clinical trials, variability which often diminishes the trial’s
results and distracts from the promise of
new treatments and therapies. Providers
participating in trials must use the Care
Considerations to increase the likelihood
of timely approvals and broader access
to treatments and therapies.
Recommended Action Items
• CDC should assemble a second international body of Duchenne experts to examine and disseminate the Care Considerations, produce new or updated recommendations, and possibly remove outdated ones. This group should also work with
patients and families to examine and disseminate information
on practical, quality-of-life interventions for individuals with
limited mobility (e.g., technology solutions) to specialists who
coordinate care for individuals with Duchenne.
• CDC should implement a training series to educate clinicians about the Care Considerations with a goal of achieving
uniform, baseline care provision for all individuals with Duchenne, available within a reasonable geographic distance. The
CDC should work with healthcare providers and advocacy
organizations to evaluate the care provided to individuals
with Duchenne, determine if care meets the standards set
in the Care Considerations, and develop strategies of family
empowerment and improved care for those who are receiving substandard care.
• NIH should provide funding for natural history and similar
studies that examine the efficacy of certain care standards.
“Setting these standards has changed the face of Duchenne,
and for that, we are incredibly grateful. However, we don’t
have real consistency until there is a system of dissemination
and a monitoring of implementation. Best practice and
standards of care should be available for all individuals,
not just those who have the good luck of geography.”
–Jill Ann Castle
Mother of Anthony, 9 years old
7
Strategic Directions for the Next Action Plan to End Duchenne - Published April 2011 - Parent Project Muscular Dystrophy
Accelerating the
Biomedical Research
Pipeline
Dylan, 5 years old
Basic Research
Perhaps no area better demonstrates
the progress made over the past decade
than what has occurred in biomedical
research and the pursuit of treatments
beyond steroids. “Since the action plan
was completed (in 2005), the funding in
muscular dystrophy has doubled,” said
John Porter, program director in the
extramural research program at the National Institute of Neurological Disorders
and Stroke (NINDS), a leading federal
funder of Duchenne research. Scientific
discovery, a strong crop of Duchenne
researchers, and National Institutes of
Health (NIH) program officers dedicated
to nurturing research in the field, have all
contributed to this exponential growth.
But with greater budgetary challenges
meaning even greater competition for
scarce government research funding
through NIH, the need for tools such
as public private partnerships and other
innovations to better leverage every
dollar will be critical going forward.
For example, initiatives like Project Catalyst leveraged $2.5 million of PPMDraised funds into a five year, $15.5 million
translational research award from the
NIH to an academic-corporate development team. Other PPMD initiatives
have raised funding to help researchers
access additional data and take other
measures to strengthen their applications to become more competitive for
federal research funding. Funds have
also been critical in helping advance
drug discovery with pharmaceutical and
biotech partners.
Translational & Clinical Research
Another key research issue going
forward will be moving more aggressively from basic laboratory research into
translational science, an issue that is becoming an even greater priority for the
NIH under Director Francis Collins. Right
now, NIH is in the process of developing
the new National Center for Advancing
Translational Sciences (NCATS). NIH is
also supporting the Therapeutics for
Rare and Neglected Diseases (TRND)
program, which is currently focused on
five pilot conditions, and is looking to
start up the Cures Acceleration Network
(CAN), a public-private drug discovery
partnership, if the funding is allocated
by Congress. More specific to muscular
dystrophy, each of the Wellstone Centers
of Excellence includes a training and
education core that have been used
to prepare researchers for clinical trials
and related human studies, a category
of researchers who may feel particularly vulnerable given the fiscal climate.
Additionally, NINDS is launching the
Network for Excellence in Neuroscience Clinical Trials (NEXT) to provide
a standing network of clinical trial sites
dedicated to neuroscience trials. The
clinical trials to be conducted by NEXT
and chosen by competitive process, can
include Duchenne and other muscular
dystrophies. The goal of NEXT is to
enhance neuroscience trials by making
them more efficient by reducing time
from trial design to start-up, speeding
patient recruitment, and facilitating
public-private partnerships.
8
Accelerating the Biomedical Research Pipeline
Recommended Action Items
“Initiatives like Project Catalyst leveraged $2.5 million
• Establish a national Duchenne/rare disease clinical registry to
be integrated with DuchenneConnect.
of PPMD-raised funds into a
• Leverage existing NIH funding mechanisms and programs
with a focus on new translational initiatives, such as developing a Duchenne-focused TRND pilot project and pursuing
grant opportunities through the new CAN program when it is
launched.
lational research award from
five year, $15.5 million transthe NIH to an academic-corporate development team.”
• NIH should establish mechanisms for enhancing and expanding the Wellstone Centers.
9
Strategic Directions for the Next Action Plan to End Duchenne - Published April 2011 - Parent Project Muscular Dystrophy
Advancing the
Regulatory Process &
Commercialization
to ensuring the regulatory system is
able and willing to address looming
issues, dominated the minds of Summit
participants. Parents questioned why
Europeans appear to have access to a
larger number of clinical trials compared
to patients in the U.S. and why some
trials appear to duplicate previously
completed studies, thus not adding to
the knowledge base. “In spite of the
contribution of this community, GSK’s
antisense trials are now moving forward
in Europe, Japan, and Korea, leaving
Americans out. I understand that there
are risks with any clinical trial, but the
risk of doing nothing is greater,” said
Michael Lee of Colorado, the parent
of a four-year-old with Duchenne. “The
voices of parents need to be included in
the discussion of what risks are acceptable for clinical trials. Otherwise, I fear
we’ll find ourselves in this same position
ten years from now, having the same
discussion and still waiting for clinical
trials and real treatments,” he said, a
point widely echoed.
Trial Outcomes
Christopher, 4 years old
Leading Duchenne researcher Eric
Hoffman of Children’s National Medical
Center in Washington likened drug discovery to a high-stakes game of poker, a
competition that requires a hefty buy-in
just to sit at the table. “Ten years ago,
this community was not at the table. We
were not playing poker. We didn’t know
what the rules were, we didn’t have the
money to play, we weren’t even allowed
in the door by [the drug industry]. Ten
years later, we are definitely now playing
poker,” Hoffman said. Right now, there
are 50 different clinical trials focused on
Duchenne, and multiple biological and
pharmaceutical products are in varying
stages of development and evaluation.
And less than two months after the One
Voice Summit, the first ever New Drug
Application (NDA) for a Duchenne drug
– ataluren, developed by PTC Therapeutics – was filed with the FDA. The drug,
which targets individuals with a stop
codon mutation, would be the first-ever
Duchenne drug to receive regulatory
approval if accepted by FDA.
Trial Transparency & Patient
Engagement
While encouraging, a host of concerns
ranging from greater transparency and
parent/patient engagement on trials
Another research issue of concern aired
was the need to ensure study evaluators focus on the right outcomes and
ask the right questions when judging
a treatment a success or a failure. “We
need to make sure that if we produce
good outcomes and favorable outcomes
that are meaningful, that the regulatory
agencies are on board to say, ‘Yes, that
is an improvement. We do need that
drug approved,’” said Chris Garabedian,
President and CEO of AVI BioPharma.
“The industry really needs better guidance and… validated clinical outcomes,
so that when we do have drugs that
have promise, we can play a hand, we
know the rules we’re playing with, and
we know what ultimately will be the
10
Advancing the Regulatory Process & Commercialization
benefit that will be good for the regulatory agencies.” For example, while the
six-minute walk test has been seen as
a standard metric, it is not possible for
all individuals, particularly those who are
no longer ambulatory.
Personalized Medicines,
Combination Therapies, and
Related Issues
Given the nature of Duchenne and how
it manifests in different forms and within
multiple exons, regulatory approval for
a class of drugs is particularly important
so lengthy and costly trials and evaluations are not required for every modified
treatment when the base chemistry and
mechanism remains the same. “What do
we need to understand that can allow
us to develop drugs that could treat
personalized medicine in the case of
very rare mutations where the FDA has a
mechanism to approve drugs as a class,
when we have the know-how and technical expertise to actually scale up the
manufacturing and provide drug supply
in the market for such a genetic variation disease?” Garabedian asked. Also,
because of the nature of Duchenne,
it is very likely combination therapies
– treatments involving multiple drugs
– will be increasingly critical, an issue
that carries a host of related regulatory
challenges and understanding of different endpoints and metrics.
FDA & EMA Coordination
Greater coordination and harmonization
between FDA, the European Medicines
Agency (EMA), and other global regulators was another issue raised related to
regulatory challenges going forward,
particularly the desire to expand access
to as many trials as possible and not to
duplicate previous trial work. “There’s
11
a tremendous amount of waste in that
duplication of process where you have
a drug trial which takes place in Europe
that’s very rigorous, that is very similar
in its consistency and its discipline as
is required by the FDA. And there’s an
opportunity cost to our sons, as well, in
time lost and function lost,” said Bob
McDonald, a physician and parent of a
six-year-old with Duchenne. Panel moderator Dr. Elizabeth McNeil, a former
FDA medical reviewer now with NINDS,
responded that while no true reciprocity between FDA and EMA exists, the
two agencies are involved in ongoing
discussion about greater coordination,
particularly when it comes to rare diseases. “Things are being done to try to
bring it together and make better sense
of what’s going on. But it’s not a pure
fit. There are still things that the two
sides do differently, and I think that will
continue to be true,” she said.
Recommended
Action Items
• Establish a central database or
repository of all past, present,
and planned Duchenne clinical
trials and studies including plain
language summaries of study
foci, as well as, any results and
findings.
• Achieve community-wide agreement as to outcomes and metrics to consider in evaluating
efficacy of a treatment, including
outcome measures for the nonambulatory population.
• Provide greater patient/parent engagement within clinical
trials, particularly regarding acceptable levels of risk. Specific
metrics would include establish
a Duchene patient/family seat
on appropriate FDA advisory
committees, such as the Pediatric Advisory Committee and
Risk Communication Advisory
Committee, and establishing a
patient panel position for NDA
regulatory hearings.
• Foster a dialogue between the
Duchenne community and FDA –
and including Congress through
negotiations and enactment of
the next Prescription Drug User
Fee Act bill (PDUFA V) – regarding benefit/risk levels.
• Produce a joint FDA/ReaganUdall Foundation or Critical Path
Institute plan of action to address
personalized medicines, combination therapies, and greater
coordination with EMA.
Strategic Directions for the Next Action Plan to End Duchenne - Published April 2011 - Parent Project Muscular Dystrophy
Supporting Adults
with Duchenne
Conrad, 24 years old
A happy problem, but a problem nonetheless, is a healthcare system inexperienced in addressing the needs of adults
with Duchenne, a perspective conveyed
by the 24-year-old Reynoldson. “I am
here today representing a community
of orphans of this orphan disease- that
is, young men over the age of 18 with
Duchenne. This is a community of people
whose medical and support needs are
not being adequately addressed.”
From needing to fly across the country
to obtain updated treatment plans, to
a lifelong battle against barriers in the
health care and educational systems, the
honors graduate and pre-law student
has constantly had to overcome hurdles
created by the lack of an infrastructure,
clinical or otherwise, for adults with
Duchenne. Specifically, he hopes to see
multidisciplinary care clinics for adults
with Duchenne established in the 25
largest cities in the nation by 2015, just
four years from now. He also hopes to
see standards that take into account
quality of life. “Real change will come
when we begin to look beyond purely
clinical measures and understand quality
of life as seen through my eyes and other
adults with Duchenne. Quality of life
comes from having a life with purpose,
meaning, and being a contributing
member of society. It comes from having
goals, being held to expectations, and
having people who will believe in possibilities for our lives,” Reynoldson said.
Adult Care Standards
Dr. Kathryn Wagner, Director of the
Center for Genetic Muscle Disorders
at Baltimore’s Kennedy Krieger Institute, spoke of caring for a 43-year-old
patient with Duchenne: “It necessitates
that each individual family transition
care from pediatric medical specialists
to adult specialists. This transition of
care is difficult for all families, and impossible for some. It requires not only
finding a neurologist with expertise in
adult Duchenne, but reassembling an
entire multi-disciplinary team where at a
minimum there is an adult pulmonologist
and cardiologist who have expertise or
at least a willingness to learn about the
particular issues involving Duchenne.”
As important as the medical issues are
the social and emotional issues of finding
ones place in the workforce and society
at large. This can be just as challenging.
Removing Barriers
For Reynoldson, progress would come
by removing government barriers and
disincentives standing in the way of
patients completing school or securing
a job, through educating and training
more physicians to care for adults with
Duchenne. It would include development of quality measures beyond ambulation and prioritize development of
innovative assistive technologies to help
patients with Duchenne overcome their
physical limitations. As parent Donna
Saccomano noted, the workforce must
also make accommodations for the personal assistants whom are a necessity for
those with Duchenne.
12
Supporting Adults with Duchenne
“Real change will come when we
begin to look beyond purely clinical measures and understand
quality of life as seen through
my eyes and other adults with
Duchenne. Quality of life comes
from having a life with purpose,
meaning, and being a contributing member of society. It comes
from having goals, being held
to expectations, and having
people who will believe in pos-
Recommended Action Items
• Develop corresponding set of Care Considerations for adults
with Duchenne.
• Influence and support policies that promote services that
lead to getting individuals with Duchenne fully participating
in the community through the general workforce and economic mainstream. The Duchenne community, working with
the broader disability community, should work to pursue and
develop policy reforms that will improve the lives of adults
living with Duchenne.
• Implement a program to both identify predictors of and
improve the wellbeing of adults with Duchenne.
sibilities for our lives.”
–Conrad Reynoldson
24 years old, living with Duchenne
13
Strategic Directions for the Next Action Plan to End Duchenne - Published April 2011 - Parent Project Muscular Dystrophy
Conclusion
Considerable progress has been achieved over the past decade in the
quest to improve life and, ultimately, to end Duchenne. Our hope is
that this foundation will enable even more profound results – chiefly
one or more treatments and therapies to stop or reverse the disease
– in the near future. As a community, we must act in a united purpose
to ensure our recommendations are implemented and achieved across
our strategic partnerships with government and the private sector.
We must remain vigilant, ask the critical questions, and redouble our
advocacy for all our families living with Duchenne and those who have
gone before us.
In the words of PPMD Founding President & CEO Pat Furlong --
“We don’t want to wait ten more years to say we have added
another ten more to a lifespan. We want to be able to say we’ve
got a lifetime.”
14
Summit Participants
Panel One: The Duchenne Families’ Perspective
D. Elizabeth McNeil, MD – Moderator
Panelists
Panelists
• Catherine Collins, New York, Parent of Dylan, age 5
• Michael Lee, Colorado, Parent of Christopher, age 4
• Jill Castle, Arizona, Parent of Anthony, age 9, currently
in clinical trial
• Anessa Fehsenfeld, Michigan, Parent of Tyler, age 11
• Chuck Riesebeck, North Carolina, Parent of Charlie,
age 11
• Conrad Reynoldson, Washington State, age 24, living
with Duchenne
Panel Two: Quality of Care, Quality of Life
Dave Zook, Chair, B&D Consulting – Moderator
Panelists
• Mark Swanson, MD, MPH – Senior Medical Advisor,
Division of Human Development and Disability, Centers
for Disease Control and Prevention
• Kate Bushby, MD – TREAT-NMD Coordinator, Center for
Neuromuscular Diseases
• Kathryn Wagner, MD, PhD – Director, Center for
Genetic Muscle Disorders, Kennedy Krieger Institute,
Associate Professor, for Neurology and Neuroscience,
Johns Hopkins School of Medicine
• Craig McDonald, MD – Professor, University of
California, Davis Health System
Committee
• Jerry Mendell, MD – Director, Center for Gene Therapy
at the Research Institute at Nationwide Children’s
Hospital
• Katherine Mathews, MD – Director, Division of Pediatric
Neurology, University of Iowa Children’s Hospital
• Jen Garofalo, Parent of Danny, age 8
15
Panel Three: The MDCC Action Plan for the
Muscular Dystrophies
Debra Lappin, Senior Vice President, B&D Consulting –
Moderator
Panelists
• Jasbir Seehra, PhD – Co-Founder of Acceleron Pharma
• Robert McDonald, MD – Parent/Board Member, PPMD
• Se-Jin Lee, MD, PhD – Professor, Johns Hopkins
University School of Medicine Molecular Biology and
Genetics Department
• Chris Garabedian – President & Chief Executive Officer,
AVI BioPharma
• Eric Hoffman, PhD – Center Director, Center for Genetic
Medicine Research, Children’s National Medical Center
Panel Four: A Conversation with the NIH about
the Muscular Dystrophies
Sharon Hesterlee, PhD, Senior Director of Research,
Parent Project Muscular Dystrophy – Moderator
Panelists
• John Porter, PhD – Program Director, Extramural
Research Program, National Institute of Neurological
Disorders and Stroke
• Glen Nuckolls, PhD – Program Director, Division of
Musculoskeletal Diseases, National Institute of Arthritis
and Musculoskeletal and Skin Diseases
Wrap Up Discussion
• Pat Furlong, Founding President/CEO, PPMD
• H. Lee Sweeney, PhD, PPMD Senior Scientific Advisor
Strategic Directions for the Next Action Plan to End Duchenne - Published April 2011 - Parent Project Muscular Dystrophy
To learn more visit
ParentProjectMD.org/OneVoice
or call 800-714-5437.
Prepared by
16