Strategic Directions for the Next Action Plan to End Duchenne

Strategic Directions for the Next Action Plan to End DuchenneA Parent Project Muscular Dystrophy Report & Recommendations from the One Voice Summit

Introduction

Ten years ago, landmark muscular dystrophy legislation was introduced in Congress. At the time the bill – the Muscular Dystrophy Community As-sistance, Research, and Education Amendments (MD-CARE Act) – was unveiled few bright spots existed for patients and families battling Duch-enne. Federal research for Duch-enne and other forms of muscular dystrophy was minimal, surveillance and data collection was non-existent, and the federal government lacked a comprehensive muscular dystro-phy research and care agenda. The MD-CARE Act forever changed this landscape.

The law created what are now six re-search Centers of Excellence – named

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 Co-ordinating Committee (MDCC) to unite all relevant government and patient voices to develop an aggres-sive, 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 dedi-cated group of congressional cham-pions. The tangible benefits from the MD-CARE Act are profound and have brought about improvements

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 discov-ery pipeline, including the critical phase III trial stage.

• Early and correct diagnoses and evidence-based care standards mean more patients are receiv-ing timely and improved care and more families benefit from genetic counseling.

• Advances in adaptive and com-munication technologies permit patients to live more engaged and connected lives.

• Life expectancy for individu-als with Duchenne, once barely reaching the early 20s, now com-monly extends into the early 30s.

Despite these successes, many chal-lenges 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

Matthew, 19 years old, and Patrick, 16 years old

1 StrategicDirectionsfortheNextActionPlantoEndDuchenne-PublishedApril2011-ParentProjectMuscularDystrophy

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to the day since the MD-CARE Act was introduced in Congress – to par-ticipate 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, sib-lings, grandparents, clinicians, re-searchers, 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 priori-ties for the next version of this plan, which is scheduled to be prepared later this year.

This report summarizes the key find-ings of the Summit. It also includes specific recommendations for con-sideration as the next version of the action plan is developed. These recommendations were developed by PPMD and informed largely by the Summit proceeding. Partici-pants in the Summit representing Federal agencies were not involved in shaping these recommendations. The recommendations are organized under the following five target areas:

• Early Diagnosis• Clinical Care• Biomedical Research• Regulatory Approval and

Commercialization• Supporting Adolescents and

Adults with Duchenne

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

why not. While other issues beyond those included in this report were raised in the Summit, this docu-ment 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.

Ultimately, in the words of PPMD Founding President and CEO Pat Furlong --

“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 pro-gression he is: to stop it and preserve his health and one day soon, hopefully, maybe even reverse it.”

Introduction

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 Dis-orders 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 recommenda-tions, 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.

• NIH should leverage funding mechanisms with a focus on translational initiatives.

• NIH should establish mechanisms for enhancing and expanding the Wellstone Centers.

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.


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Improving Early & Accurate Diagnosis

Access to early and accurate diagno-sis 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 diagno-ses 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, health-care provider visits, etc., so just one potential benefit of newborn screen-ing 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 un-derstaffed 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 involv-ing PPMD, the American Academy of Pe-diatrics, 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 Consider-ations 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 Chil-dren’s Hospital in Columbus, Ohio noted challenges associated with newborn screening, including the need for fol-low-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 through-out 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

Charlie, 11 years old

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 earli-est possible stage, and the continued discovery and advancement of promis-ing therapies will further underscore the need for early diagnosis and interven-tion. 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 CounselingNewborn screening cannot be imple-mented without a well-developed plan to provide genetic counseling to affect-ed 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 as-sessment 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 di-agnosis 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 commu-nity’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 deter-mined.

“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 RiesebeckFather of Charlie, 11 years old

Improving Early & Accurate Diagnosis

[1]Bushbyetal.,2010.Diagnosis and management of Duchenne muscular dystrophy,. Lancet Neurol.9(1):77-93.


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Enhancing Clinical Care

Improvements in care, particularly pul-monary and cardiac care and use of ste-roids, has led to increased longevity and improved health outcomes for patients with Duchenne. Despite these gains and significant public health and peer edu-cation 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 ConsiderationsBeyond publication of the Care Consid-erations, CDC has been working with PPMD, the Muscular Dystrophy Associa-tion (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 incred-ibly grateful. However, we don’t have real consistency until there is a system of dissemination and a monitoring of

implementation. Best practice and stan-dards 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 Reyn-oldson 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.

All individuals with Duchenne deserve care matching that described within the Care Considerations. The Care Consid-erations 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 Con-siderations, including additional areas that need to be addressed. Further con-sideration 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 rehabilita-tion 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

Anthony, 9 years old

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 dis-semination 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 vari-ability of results in clinical trials, vari-ability 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 Duch-enne experts to examine and disseminate the Care Consider-ations, produce new or updated recommendations, and pos-sibly 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 clini-cians about the Care Considerations with a goal of achieving uniform, baseline care provision for all individuals with Duch-enne, 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 receiv-ing 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 CastleMother of Anthony, 9 years old

Enhancing Clinical Care


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Accelerating the Biomedical ResearchPipeline

Basic ResearchPerhaps 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 Na-tional 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 Cata-lyst leveraged $2.5 million of PPMD-raised funds into a five year, $15.5 million translational research award from the NIH to an academic-corporate devel-opment team. Other PPMD initiatives have raised funding to help researchers access additional data and take other measures to strengthen their applica-tions 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 ResearchAnother key research issue going forward will be moving more aggres-sively from basic laboratory research into translational science, an issue that is be-coming 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 particu-larly vulnerable given the fiscal climate. Additionally, NINDS is launching the Network for Excellence in Neurosci-ence 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.

Dylan, 5 years old

Recommended Action Items• Establish a national Duchenne/rare disease clinical registry to be integrated with DuchenneConnect.

• Leverage existing NIH funding mechanisms and programs with a focus on new translational initiatives, such as develop-ing a Duchenne-focused TRND pilot project and pursuing grant opportunities through the new CAN program when it is launched.

• NIH should establish mechanisms for enhancing and expand-ing the Wellstone Centers.

“Initiatives like Project Cata-

lyst leveraged $2.5 million

of PPMD-raised funds into a

five year, $15.5 million trans-

lational research award from

the NIH to an academic-cor-

porate development team.”

Accelerating the Biomedical Research Pipeline


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Advancing the Regulatory Process & Commercialization

Leading Duchenne researcher Eric Hoffman of Children’s National Medical Center in Washington likened drug dis-covery 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 Therapeu-tics – 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 EngagementWhile encouraging, a host of concerns ranging from greater transparency and parent/patient engagement on trials

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 accept-able 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 OutcomesAnother research issue of concern aired was the need to ensure study evalua-tors 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 guid-ance 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

Christopher, 4 years old

benefit that will be good for the regula-tory 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 IssuesGiven 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 evalua-tions 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 techni-cal expertise to actually scale up the manufacturing and provide drug supply in the market for such a genetic varia-tion 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 differ-ent endpoints and metrics.

FDA & EMA CoordinationGreater coordination and harmonization between FDA, the European Medicines Agency (EMA), and other global regula-tors 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

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 mod-erator Dr. Elizabeth McNeil, a former FDA medical reviewer now with NINDS, responded that while no true reciproc-ity between FDA and EMA exists, the two agencies are involved in ongoing discussion about greater coordination, particularly when it comes to rare dis-eases. “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 agree-ment as to outcomes and met-rics to consider in evaluating efficacy of a treatment, including outcome measures for the non-ambulatory population.

• Provide greater patient/par-ent engagement within clinical trials, particularly regarding ac-ceptable levels of risk. Specific metrics would include establish a Duchene patient/family seat on appropriate FDA advisory committees, such as the Pedi-atric 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) – regard-ing benefit/risk levels.

• Produce a joint FDA/Reagan-Udall Foundation or Critical Path Institute plan of action to address personalized medicines, com-bination therapies, and greater coordination with EMA.

Advancing the Regulatory Process & Commercialization


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Supporting Adults with Duchenne

A happy problem, but a problem none-theless, is a healthcare system inexperi-enced 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 pos-sibilities for our lives,” Reynoldson said.

Adult Care StandardsDr. Kathryn Wagner, Director of the Center for Genetic Muscle Disorders at Baltimore’s Kennedy Krieger Insti-tute, 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 im-possible 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 BarriersFor 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 develop-ment of quality measures beyond am-bulation 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 per-sonal assistants whom are a necessity for those with Duchenne.

Conrad, 24 years old

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 eco-nomic 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.

“Real change will come when we

begin to look beyond purely clin-

ical 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 contribut-

ing member of society. It comes

from having goals, being held

to expectations, and having

people who will believe in pos-

sibilities for our lives.”

–Conrad Reynoldson24 years old, living with Duchenne

Supporting Adults with Duchenne


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.”

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Summit Participants

Panel One: The Duchenne Families’ PerspectiveD. Elizabeth McNeil, MD – ModeratorPanelists

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 LifeDave 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

Panel Three: The MDCC Action Plan for the Muscular DystrophiesDebra 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 DystrophiesSharon 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


16

Prepared by

To learn more visit

ParentProjectMD.org/OneVoice

or call 800-714-5437.

Strategic Directions for the Next Action Plan to End Duchenne

Documents

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