Strategic Directions for the Next Action Plan to End Duchenne

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