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PROGRESS REPORT

Our Mission To improve the treatment, quality of life, and long-term outlook for all individuals affected by Duchenne muscular dystrophy through research, education, advocacy, and compassion.

Together we are...

Parent Project Muscular Dystrophy 401 Hackensack Ave., 9th Floor Hackensack, New Jersey 07601 T. 800.714.5437

created by Big Duck

ParentProjectMD.org


LEADING THE FIGHT TO END DUCHENNE


DEAR PPMD FAMILY

Dear friends, families, and supporters,

It’s no secret that for the last few years, countless

My son has Duchenne muscular dystrophy.

families have struggled economically. And yet, because of you—our dedicated, passionate community—even

When Sam was first diagnosed, like so many

during the worst financial period in recent American

Duchenne families, we went through a period of

history, our fight against Duchenne has not stopped. It

mourning. But then it was time to focus and put

has not slowed. Because of you, we at Parent Project Muscular Dystrophy are stronger and more determined than ever to stop Duchenne in its tracks.

together a team that would help us fight this disease. We convened doctors, therapists, nutritionists, and anyone else who would play a role in his day-to-day care. We talked to teachers, coaches,

Because of you, we are filled with hope, promise, and momentum.

and community-members so that everyone knew what Sam would be

Exciting research is moving into the clinical trial pipeline. With the

dealing with and what they could do to help.

publication of the Care Considerations, we now have a standard by which physicians and caregivers can treat our children. The MD-CARE

Several years later, this team has become part of the Killian family.

Act has been reauthorized, and our voices continue to be heard in

In a way, our journey has been like PPMD’s journey. In 1994, when a

Congress. We continue to raise money and awareness through

determined group of parents and grandparents began working to raise

national programs like Coach To Cure MD and Run For Our Sons,

awareness, increase research efforts, and expand care in Duchenne, the

and through hundreds of grassroots events around the country.

key was collaboration and teamwork.

Because of you, we continue to seek innovative ways to use social

Today, as a result of collaborations with scientists, government agencies,

media to build our community and bring us closer to a cure. We

physicians, and families, PPMD is the largest nonprofit in the world

have created a thriving Duchenne community site. We have an ever-

dedicated to fighting Duchenne—and we are closer than ever to a cure.

evolving presence on Facebook. We host webinars that respond to pressing issues in our community.

The PPMD team is led by Pat Furlong, Kimberly Galberaith, and Sharon Hesterlee. They work tirelessly to move us all toward a cure, while at the

Because of you, we can continue to expand our investments in

same time earning PPMD the highest ratings attainable from nonprofit

research, advocacy, care, and education.

watchdogs like the Better Business Bureau and Charity Navigator.

Because of you, we will all win this fight. We will end Duchenne.

This is not the life I imagined for Sam, for myself, or for my family.

Warm regards,

But now that we are all on this journey, I cannot imagine our lives without Parent Project Muscular Dystrophy. Best,

Pat Furlong President, Chief Executive Officer Parent Project Muscular Dystrophy

John Killian Board Chair Parent Project Muscular Dystrophy

DEAR FRIENDS...

Dear PPMD Family,


About Duchenne

Parent Project Muscular Dystrophy (PPMD) is the largest nonprofit

disorder diagnosed in childhood, affecting approximately one in every 3,500

organization in the United States focused entirely on Duchenne muscular

live male births (about 20,000 new cases each year). Because the Duchenne

dystrophy. We are the only Duchenne organization:

gene is found on the X-chromosome, it primarily affects boys; however, it occurs across all races and cultures. Duchenne can be passed from parent to child, but approximately 35% of

• To invest in a broad research portfolio; • To successfully leverage $15.4

muscular dystrophy research, with $162 million specific to Duchenne; • To convene topic-specific, care-

cases occur because of a random spontaneous mutation. In other words,

million from the National Institutes

related workshops to better

Duchenne can affect any family. Although there are medical treatments that

of Health (NIH) into a new drug

understand the spectrum of issues

may help slow its progression, there is currently no cure for Duchenne, and

discovery program;

faced by those diagnosed with

young men with Duchenne typically live only into their late twenties.

•T  o accelerate research through a partnership with the NIH to ensure that support continues for promising research that would otherwise fail to receive further funding from the NIH; • To consistently lobby the federal government for muscular dystrophy funding, thus far helping to leverage $434 million into

Duchenne; • To host a Duchenne-specific annual conference in the United States; • To receive the seal-of-approval from the Better Business Bureau’s Wise Giving Alliance; • To receive a four-star rating from Charity Navigator several years running.

Since 1994, PPMD has improved the treatment, quality of life, and long-term outlook for all individuals affected by Duchenne through research, advocacy, care, and education. Because of our efforts, families affected by Duchenne have better access to state-of-the-art care information, research is moving forward at an accelerated pace, and legislation now exists to fund Duchenne research and outreach programs. The name of our organization reflects our grassroots origins, our parent-led focus, and our passion. Parent Project Muscular Dystrophy is now a name recognized around the world as the leader in the Duchenne community. We hold the highest ethical standards and consistently receive high marks from watchdog organizations. We take a comprehensive approach in the fight against Duchenne—funding research, promoting advocacy, connecting the community, broadening treatment options, and raising awareness. Only this comprehensive approach will lead to the day that 100% of those diagnosed can turn to a treatment that will end Duchenne muscular dystrophy.

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PARENT PROJECT MUSCULAR DYSTROPHY

Duchenne muscular dystrophy (Duchenne) is the most common fatal genetic

3


RECENT ACHIEVEMENTS

• Continued to invest in research and potential treatments that will benefit the entire Duchenne community; • Partnered with the National Institutes of Health to launch the End Duchenne Grant Award Program (GAP), the firstever Duchenne-specific bridging program, and the first NIH bridgefunding program presented in the rare disease category; • Expanded PPMD’s scientific leadership by bringing in Sharon Hesterlee, Ph.D., as the new Senior Director of Research and Advocacy, and by establishing a new Scientific Advisory Board to review metrics in order to maximize research funding and its impact on this generation of boys; • Led the advocacy initiative in the muscular dystrophy community, which resulted in the reauthorization of the MD-CARE Act; • Hosted and expanded the PPMD annual Advocacy Conference, ensuring that our voice continues to be heard in Washington, DC; • Expanded outreach and education initiatives with the Centers for Disease Control and Prevention (CDC) to help Duchenne patients receive earlier diagnosis and access to care; • Worked alongside the CDC and other Duchenne authorities to help create the Care Considerations, the first published document in the Duchenne community outlining acceptable guidelines for care;

• Hosted our Annual Connect Conference, which continues to see 20% growth each year, with more than 50 scientific and medical professionals and hundreds of family members in attendance; • Initiated the first-ever Duchenne Therapeutic Development Meeting in the United States, which runs in parallel with PPMD’s Annual Connect Conference; • Expanded PPMD’s website to include a Duchenne-specific community site (community.parentprojectmd.org) that helps connect families from around the world; • Supported and expanded DuchenneConnect.org, a community resource for families, healthcare professionals, researchers, industry, and policymakers to learn about clinical trials and treatments (in English and Spanish); • Developed and launched FACES (Families Advocating, Connecting, Educating, and Supporting), the official parent-led outreach initiative of PPMD; • Partnered with the American Football Coaches Association to develop Coach To Cure MD, a national one-day awareness event for Duchenne muscular dystrophy; • Expanded the Run For Our Sons program to include more national marathon programs, as well as local 5K and 10K events; • Capitalized on the growing social media network to expand PPMD’s visibility and awareness for Duchenne muscular dystrophy.

PPMD’s research program has kicked into high gear, and investments in therapy development are starting to bear fruit. Never before have there been so many promising drug candidates either in clinical testing or headed to the clinic in the near term, and many of them have benefited from our funding: •P  TC Therapeutic’s Ataluren completed a Phase IIb study;

• Acceleron launched its first study of a muscle enhancer in Duchenne;

•A  VI and Prosensa each conducted studies of systemic compounds to skip exon 51;

• Nationwide Children’s Research Hospital in Columbus, Ohio, began enrollment for a study to compare losartan and ACE inhibitors;

•P  rosensa began clinical development of a compound to skip exon 44; •B  iomarin began testing of its utrophin upregulating compound in healthy volunteers;

RESEARCH

These are just some of our recent accomplishments in our fight to end Duchenne:

• Two academic groups began planning for an initial study of sildenafil, a nitric oxide upregulator.

Behind the compounds in clinical testing now lies a full “pipeline” of compounds in the preclinical stage. Thanks to the tremendous efforts of everyone involved, our flagship Project Catalyst program with PTC Therapeutics has produced two drug candidates, a utrophin upregulator and a myostatin inhibitor. Each has entered the final phase of optimization in preparation for clinical development. Our funds have also supported the preclinical development of “biglycan,” another compound that stimulates utrophin upregulation. Our new End Duchenne Grant Award Program (GAP), which provides additional funding to investigators who just miss the National Institutes of Health (NIH) pay-line so that they can gather additional data to bolster their resubmission, also noted its first successes in 2010. GAP recipients Justin Fallon and Krista Vandenborne parlayed their PPMD awards into winning re-applications at the NIH. Our grantees understand that we are not just a source of funding, but rather a committed partner. We bring the right scientific and clinical advisors to the table; we meet with companies and regulatory authorities; we advocate for research funds; and we ensure that the voice of the family is heard in the process. 5


VOICES: Zachery Smith,

• Utrophin and muscle cell membrane integrity. Utrophin was selected as a target to search for compounds that promote membrane stabilization. In the absence of

16 years old, Valrico, FL

dystrophin, muscle membranes are more fragile and are disrupted easily. Utrophin functions similarly to dystrophin and can substitute for the loss of dystrophin to help

“Thank you to my parents and the other families raising money to fund research for the scientists to help find a cure for me.”

strengthen muscle membranes. Drugs that increase utrophin levels in cells would allow utrophin to compensate for the loss of dystrophin and strengthen the muscle membrane. • Myostatin and muscle growth and regeneration. Myostatin and the muscle-specific isoform of insulin-like growth factor 1 (mIGF1) were selected as targets to increase muscle growth and regeneration. Drugs that target these proteins are expected to increase muscle mass. As muscles in Duchenne boys are fragile and break easily, there is continued regeneration that ultimately depletes the population of muscle stem cells.

Project Catalyst Established in 2004, Project Catalyst is a first-of-its-kind research initiative designed to identify new drugs to treat the present generation of young men with Duchenne. Project Catalyst is a collaboration between PPMD and PTC Therapeutics, Inc., a biopharmaceutical company focused on the discovery,

Since myostatin and mIGF1 are regulators of cell growth, drugs that alter their levels would prevent or slow the loss of muscle mass in Duchenne boys. • SERCA2a and cardiac function. SERCA2a was selected as a target since the

development, and commercialization of small-molecule drugs. Our initial $3 million investment in

“heart is a muscle too.” Boys with Duchenne or Becker muscular dystrophy have

Project Catalyst helped leverage an additional $18 million into this drug discovery program. Project

cardiac issues as a consequence of defective calcium signaling. SERCA2a is a protein

Catalyst continues to be a leading program in the Duchenne research arena, one that is swiftly moving

that can help repair this defect by pumping calcium across the sarcoplasmic reticulum

closer to the development of treatments for every young man diagnosed with Duchenne.

membrane. The goal of this program is to identify compounds that increase the

RESEARCH

Current Project Catalyst Targets

amount of SERCA2a in the heart so that defective calcium signaling is corrected. Project Catalyst has made significant progress to date. We will continue our intensive

Drug Development Status

1

Lead Candidate Development Discover targets for drug therapy

chemistry and pharmacology efforts and continue to work to improve both the efficacy

2

Lead Optimization Identify the most promising targets

3

Preclinical Development Synthesize and test compounds

4

Clinical Trials (Phase I, II, III)

and safety of the lead compounds through the lead optimization phase of our program.

Test effectiveness of therapies

utrophin upregulator myostatin inhibitor igf1 upregulator serca2a upregulator ataluren biglycan

lamin iii

Project Catalyst

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Other PPMD-funded Resarch

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ADDITIONAL PROJECTS FUNDED BY PPMD

We developed the End Duchenne Grant Award Program in partnership with the National Institutes of Health (NIH) to ensure that funding continues for promising research that would otherwise fail to receive further funding from the NIH. Our bridge funding accelerates research and strengthens the possibility that researchers will receive future federal dollars toward the development of new treatments

Project: Gene therapy/myostatin inhibition in mice and dogs Myostatin inhibition is an attractive therapeutic target because inhibition relates to how well muscle mass is maintained in a variety of disorders, including the muscular

for Duchenne.

dystrophies, cachexia, and sarcopenia. This project was funded to understand the

Summary of Year-1 Funded Grants

on the heart. These experiments are ongoing and should give a realistic view of the

degree of benefit in skeletal muscle, and the possible positive and/or negative effects

1. Brown University/Justin Fallon—Biglycan as a potential therapeutic treatment for Duchenne muscular dystrophy. Outcome: NIH Award granted. 2. U. Florida/Krista Vandenborne—Magnetic Resonance Imaging and Biomarkers for Muscular

pros and cons of myostatin inhibition as a potential treatment for Duchenne.

Project: Influence of long-term myostatin inhibition on dystrophic cardiomyopathy

Dystrophy. This proposal intends to validate the potential of noninvasive magnetic resonance

This is a follow-on project to the gene therapy/myostatin inhibition to further

imaging (MRI) and spectroscopy (MRS) to monitor disease progression and to serve as an outcomes

investigate the effect on heart function. An unexpected finding in dystrophic (mdx) mice

measure for clinical trials in Duchenne muscular dystrophy. Outcome: NIH Award granted.

following long-term myostatin inhibition is an inhibitor-dose-dependent increase in heart

3. UCLA/Melissa Spencer—Osteopontin (OPN) as a Therapeutic Target. This proposal will evaluate

weight and a decline in systolic function. This project was developed to perform serial

the validity of Osteopontin as a therapeutic target in Duchenne muscular dystrophy. OPN appears to

echocardiograms on these animals to precisely track alterations in heart function.

regulate the immune milieu of dystrophic muscle and its ablation generates a more immunologically

Project: Increasing calcium buffering in mdx mice with over-expression of SERCA1a

favorable anti-inflammatory environment. 4. UCLA/Carmen Bertoni—High throughput screening (HTS) to identify chemical compounds that increase the efficiency of oligonucleotide-mediated (ssODN) gene correction in Duchenne and that can be advanced into a clinical application for the treatment of Duchenne muscular dystrophy. This proposal will screen the Prestwick library, a collection of all of the FDA-approved drugs, to identify compounds that can significantly enhance the ssODN mediated gene repair and that are already

It has been well documented that dystrophin deficiency in muscle results in excess calcium influx following contraction, and that this ultimately leads to muscle damage through multiple maladaptive mechanisms. Additionally, experimental evidence indicates there may be a calcium-pumping deficit due to the loss of expression of SERCA1a in fast fibers (Divet A 2005). These experiments could validate that altering calcium handling in

approved for use in humans, thus increasing the chances of moving this technology into a clinical

skeletal muscle in Duchenne patients is a reasonable therapeutic approach.

scenario in a relatively short period of time.

Project: Investigation of PGC-1a as a target and SIRT1 activators

5. Prothelia/Bradley Hodges—IV-based protein therapy approach to treat Duchenne muscular dystrophy. Prothelia has an exclusive license to the protein therapeutic PRT-01. This approach is evaluated to understand the potential to stabilize both skeletal and cardiac muscles by enhancing the activity of non-dystrophin surrogates.

RESEARCH

End Duchenne Grant Award Program (GAP)

Increased utrophin expression has repeatedly been shown to reduce pathology in dystrophic skeletal muscle. In addition, dystrophic muscle demonstrates mitochondrial abnormalities (likely due to oxidative free radical damage). Recently, PGC-1 activation has been shown to increase oxidative genes, and transgenic mdx mice over-expressing PGC-1 had increased utrophin mRNA and improved histology. While it was not shown in previous studies, if over-expression of PGC-1 in post-natal mdx mice increases utrophin, then the dystrophic muscles should be more resistant to damage caused by lengthening contractions.

PPMD End Duchenne GAP Scientific Advisory Board Edward Tenthoff, Piper Jaffray

Katherine D. Mathews, M.D., University of Iowa

Lorenzo Puri, M.D., Ph.D., Burnham Institute

Jeff Molkentin, Ph.D., Cincinnati Children’s Hospital Medical Center

Kathryn Wagner, M.D., Ph.D., Kennedy Krieger Institute

Ronald Meyer, Ph.D., Michigan State University

Jody Puglisi, Ph.D., Stanford University 8

Lee Sweeney, Ph.D., University of Pennsylvania

Project: Continuing examination of the Bowman-Birk Inhibitor (BBI) in dystrophic mice BBI improves the overall phenotype of the muscles of the mdx mouse, including increasing mass and strength and decreasing necrosis. However, as expected, BBI does not treat the underlying increased sensitivity damage that is due to loss of dystrophin. Nevertheless, it is likely the increased force production and decreased necrosis will slow the progress of disease and lead to an improved quality of life for those afflicted with Duchenne. This project will evaluate the effects of administering pure BBI compared to the effects of using different purification processes. 9


Project: AAV-mediated cardiac gene therapy in the dog model of Duchenne muscular dystrophy Virtually all patients with Duchenne develop cardiomyopathy, but clinical signs associated with the cardiovascular system may be masked by severe skeletal muscle weakness. Gene replacement therapy is a promising technique that may result in direct myocardial and skeletal muscle improvement. Although there are two strategies currently under investigation using AAV vectors to provide dystrophin expression in skeletal muscle in Duchenne patients, it is unknown whether the myocardial response to therapy will mirror the skeletal muscle response. This project compares AAV-directed exon-skipping (U7) in the GRMD dog (which creates a nearly full-length dystrophin protein), to the delivery of a microdystrophin, which will fail to rescue a number of components of the cardiac DGC, including NOS.

Project: Preconditioning stem cells in culture The delivery of muscle adult stem cells may provide a means to correct the skeletal muscle of patients with a number of different forms of muscular dystrophy. The goal of this work is to develop technologies that will promote and reinforce stem cell commitment to the myogenic lineage prior to implantation in a diseased tissue. This project is a collaboration between the U.S. and France. An important objective of the overall project is not only to understand to what extent external signals associated with disease can be overridden in stem cells leading to the desired specification, but also to determine to what extent the physical properties of the diseased matrix will interfere with specification and ultimately differentiation into muscle.

PPMD welcomes Sharon Hesterlee, Ph.D. To help expand our drug development

Dr. Hesterlee sees

and advocacy efforts, Sharon Hesterlee,

a transition in

Ph.D., has joined PPMD’s staff.

thinking around the

Dr. Hesterlee, whose background is

development of

in neuroscience, comes to us after

new drugs. “For

11 years at the Muscular Dystrophy

so many years,

Association, where she developed

companies were

MDA’s translational research and

only interested in

venture philanthropy programs

developing drugs for big markets.

and brokered $28 million worth of

It’s amazing to see the amount of

biotechnology contracts.

interest Duchenne is getting now,”

President Pat Furlong welcomed Dr. Hesterlee to PPMD in January 2010. “Sharon brings with her not only expertise in the field of neuromuscular disease and experience brokering partnerships with industry, but she also brings with her a passion for fighting— fighting for the best treatments, fighting to find a cure, fighting to end Duchenne. Sharon could have gone to any organization working with any neuromuscular disease. The fact that someone of her talent and intelligence wanted to work with PPMD is humbling, and it reinforces

said Dr. Hesterlee. “But the more candidates we have in testing the better, so we have to think creatively about what we can do as a community

RESEARCH

ADDITIONAL PROJECTS FUNDED BY PPMD (Cont’d)

to provide incentives for industry. A robust patient registry that allows us to efficiently identify trial participants, validated endpoints, and biomarkers for clinical studies—these things can all dramatically decrease the cost of developing a new drug. PPMD has made a good start with the DuchenneConnect registry and the Six-Minute Walk Test. Now we should focus on developing good biomarkers.”

the Duchenne community’s belief in what we are doing.”

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Advocacy and Impact

For years, Parent Project Muscular Dystrophy has facilitated interactions between families and members of Congress through our annual Advocacy

PPMD’s Annual Advocacy Conference Every year, families from across the country gather in Washington, DC, for the largest annual Duchenne-

Conference in Washington, DC, legislative roundtables, and more. Our

specific organized advocacy event. Advocates spend several days visiting hundreds of members of Congress

efforts have secured tens of millions of dollars for Duchenne research and

to make sure the voices of those living with Duchenne are heard throughout the halls of Capitol Hill. These

care centers, from the Centers for Disease Control and Prevention (CDC)

efforts have resulted in the MD-CARE Act (which included the establishment of six Wellstone Centers of

and from the National Institutes of Health (NIH).

Excellence), the Reauthorization of the MD-CARE Act, and increased funding to the NIH and the CDC.

• In 2001, Congress passed the MD-CARE Act, the first legislation for muscular dystrophy. It is also the only condition-specific legislation to become law in recent years. The bill was reauthorized in 2008. • Since passage of the MD-CARE Act, more than $434 million has been invested in muscular dystrophy research with more than $162 million going to Duchenne-specific research. • Six Wellstone Centers of Excellence have been established as a result of the MD-CARE Act. • Our annual Advocacy Conference unites hundreds of families from across the United States and is the largest organized Duchenne advocacy event.

• Our advocates visit hundreds of congressional offices annually, urging an increase in funding at the NIH and the CDC. • We are represented on the Muscular Dystrophy Coordinating Committee; the committee was established with the MD-CARE Act and is charged with developing and executing the research agenda for the muscular dystrophies. • Pat Furlong is a committee member on the Collaboration in Education and Test Translation Program. She serves on the Institute of Medicine Committee on Accelerating Rare Diseases Research and Orphan Product Development. She also serves as a member of the National Task Force for the Early Identification of Childhood Neuromuscular Disorders. She is also on the data safety monitoring board for both the Rare Diseases Clinical Research Network and the Cooperative International Neuromuscular Research Group.

The MD-CARE Act PPMD led the charge for the 2001 MD-CARE Act, the first muscular dystrophy legislation passed by Congress. This critical piece of legislation directed the National Institutes of Health to establish a government-wide Muscular Dystrophy Coordinating Committee, and it also directed the CDC to expand data collection on muscular dystrophy. The MD-CARE Act also called for the creation of scientific Centers of Excellence across the country to accelerate research on muscular dystrophy. Named after the late Senator Paul D. Wellstone, the six centers are supported by collaborations among the following: • National Institute of Arthritis and Musculoskeletal and Skin Diseases;

• National Institute of Neurological Disorders and Stroke.

• National Institute of Child Health and Human Development; The Centers’ goals are to provide an interactive environment that will advance knowledge of and treatments for the muscular dystrophies by: • Promoting collaborations and providing shared resources;

• Developing greater patient awareness of basic and clinical research and enabling their

• Advancing basic research while stimulating translational research; • Fostering outreach activities;

participation in clinical trials; • Facilitating the development of gene therapy for the muscular dystrophies.

Reauthorization of the MD-CARE Act Since passage of the MD-CARE Act in 2001, major advancements have taken place in research, drug trials, and care methods. In 2008, again due in large part to the leadership and commitment of our advocacy campaign, Congress reauthorized the MD-CARE Act to continue funding vital research, giving continued hope to families.

VOICES: Michael Gaglianone,

14 years old, Mt. Ephraim, NJ

“When I went to Washington, DC, and talked, I felt like it was the most important thing I ever did. I felt like I was doing my part to let them know that me and other kids need their help so not as many kids have to go through not being able to walk.” 12

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Care

Care Considerations Care for Duchenne varies in the United States and around the world. In 2005, we began working with leadership at the Centers for Disease Control and Prevention (CDC) to establish a steering committee that would lead the effort for the development of Care Considerations in Duchenne. Since our founding in 1994, PPMD has pushed to establish clear, specific treatment guidelines for those with Duchenne. At last, we have them. In February 2010, the DMD-Care Considerations Working Group published guidelines in Lancet Neurology titled ”Diagnosis and Management of Duchenne Muscular Dystrophy,” in which the group evaluated assessments and interventions used in the management of Duchenne muscular dystrophy. The authors’ recommendations are intended for the wide range of physicians and healthcare professionals who care for individuals with Duchenne. The publication of these important guidelines are the result of a three-year project to provide a framework for recognizing the multisystem primary manifestations and secondary complications of Duchenne; and for providing multidisciplinary care. The Lancet guidelines represent an important part of the CDC’s commitment to muscular dystrophy and will help healthcare providers better diagnose and care for the Duchenne community. The Care Considerations were reviewed and rated by 84 national and international experts representing 20 disciplines. The Care Considerations represent an expert consensus about care, and they establish guidelines about what care should be like, what tests should be given, and what medicines/treatments need to be added and when. The Care Considerations discuss the need for multidisciplinary care (coordinated care that involves many subspecialists), the need for genetic testing, and the importance of family participation in global registries. Essentially, the Care Considerations provide a roadmap for better care. Better care translates into an improved quality of life and extended life span for our children. It provides all of us—parents, children, researchers, and clinicians—with a level of confidence about care. With the Care Considerations, we are able to highlight gaps in care and point to what we need to think about in order to improve our base of knowledge. This in turn prepares our sons for clinical studies; and it sets researchers, clinicians, and industry on a path toward new and promising therapies.

VOICES: Seph Ware,

8 years old, West Monroe, LA

“Better information means better doctors. Everyone needs a good doctor.” 14

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Education and Awareness

The National Task Force for Early Identification of Childhood Neuromuscular Disorders

DuchenneConnect

To address the delay that families frequently experience between symptom onset and

enough data to understand the relationship between the mutation and the clinical course. That’s why

diagnosis of neuromuscular disorders, in 2009 we convened The National Task Force for

PPMD created DuchenneConnect.org, the central community resource for families, healthcare

Early Identification of Childhood Neuromuscular Disorders. The Task Force is funded by

providers, researchers, industry professionals, and policymakers.

a cooperative agreement from the CDC and includes representatives from: • Parent Project Muscular Dystrophy;

•A  merican Academy of Physician Assistants;

• American Academy of Pediatrics;

•N  ational Association of Pediatric Nurse Practitioners;

• American Academy of Neurology; • Childhood Neurology Society;

•N  ational Society of Genetic Counselors;

• National Coalition for Health Professional Education in Genetics; • Muscular Dystrophy Association; • Cure CMD;

Now that each child’s specific genetic mutation can be identified, the challenge remains to collect

DuchenneConnect.org is interactive, notifying families of promising clinical trials, and it offers researchers/industry the opportunity to understand the progression of the disorder and the patient population, thereby accelerating the development of new treatments. The response to DuchenneConnect has been remarkable, reinforcing our belief that this online resource meets a very real need within the clinical trial process. In its first three years, more than 1,700 individuals from 60 countries have registered with DuchenneConnect.org and reported their diagnoses and ambulatory status.

• SMA Foundation; • Families of SMA.

The Task Force aims to increase clinicians’ awareness of neuromuscular disease as a cause of developmental delay in young children ages six months to five years, and to help health care providers who see children in their early years of life become better at identifying

patients & families

doctors

researchers

industry

policy makers

the early symptoms of neuromuscular disorders so they can make appropriate referrals. Specifically, the Task Force is working towards a set of outcomes in which providers will: • Perform developmental motor assessment, screening, and appropriate follow up and referral;

• Be less inclined to “wait and see” and more inclined to act on motor delay;

• Evaluate for motor weakness in all children with developmental delay, and consider obtaining CK testing;

• Appreciate that early signs of neuromuscular weakness may be more subtle, and different, than later signs.

1,700 60 patient records

DuchenneConnect is a central hub, linking patients, resources,

countries

and industry professionals.

• Be attentive to parents’ concerns about their children’s motor development;

DuchenneConnect Patient Diagnosis

To achieve these outcomes, we are developing a set of core educational messages that

Becker

7%

will be incorporated into fact sheets, a series of case studies, and an online video library

Unconfirmed

6%

illustrating early signs of neuromuscular weakness.

Confirmed Carrier

3%

At Risk to be Carrier

2%

Manifesting Carrier

1%

VOICES: Josh Winheld,

passed away December 2009 at age 31, Mt. Ephraim, PA

“I always felt that if I had to have this disease, some good ought to come from it. To that end it’s my sincere wish that my story will add to the wealth of knowledge that exists on living with serious illnesses.” –From Josh’s book: Worth the Ride

Duchenne

81%

DuchenneConnect Patient Ambulation Status Walk without assistance

55%

Do not walk Use assistive devices

30% 15%

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COMMUNITY

PPMD’s Annual Connect Conference

As part of our 2010 Connect Conference, we introduced the first Duchenne Therapeutic Development

What started almost two decades ago as a small group of parents gathering to discuss

Meeting, a scientific meeting that ran parallel with the Connect Conference. While we still provided

current Duchenne topics has evolved into the only annual conference focused entirely

expert presentations regarding Duchenne research during the comprehensive Connect Conference,

on Duchenne muscular dystrophy: PPMD’s Annual Connect Conference.

we felt the need to also hold a scientific meeting that was exclusively dedicated to Duchenne research. By providing a specific forum for researchers, we united the Duchenne research field and encouraged

Each year nearly 500 families from around the world gather to learn the latest progress

research collaborations.

in the fight to end Duchenne. They also gather for support, strength, and camaraderie. Our Annual Connect Conference is an opportunity for families, physicians, researchers, and experts of all kinds to speak face-to-face about Duchenne. These discussions open communication channels, lay the groundwork for future collaborations, and shape our

Scientific conference attendees of note:

understanding of the Duchenne landscape.

• Representatives from eight biotech companies including AVI, GSK, Acceleron,

The PPMD Annual Connect Conference features presentations on such topics as: • The Basics of Duchenne: Understanding the Diagnosis;

• The Community Impact in

• Genetic Testing and DNA Sequencing;

• Reports from the FDA and NIH;

• Optimal Care: Understanding Steroids, Growth Hormone, Cardiac and Respiratory;

• Duchenne Research Strategies and Timelines;

Washington, DC;

• Practical Physical Therapy sessions;

• Approved Drugs and Their Use in Duchenne;

• Behaviors in Duchenne;

• Living with Duchenne: Our Expert Panel;

• Coping and Living in the Present;

• Family Dynamics.

and PTC Therapeutics; • Scientists representing every major therapeutic approach in development for Duchenne, from exon-skipping to utrophin upregulation, from gene therapy to cell therapy.

• Updates on Current and Forthcoming Clinical Trials;

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COMMUNITY

VOICES: J  oel Poysky,

7 years old, Katy, TX

“The coaches [in Coach to Cure] are nice because they are raising money for boys like me. I think the coaches are cool. I hope it will help make a medicine so that my arms and legs will get better... I want the medicine to make me normal.”

Run for our Sons With thousands of runners and millions of dollars raised, Run For Our Sons is an important way for members of the Duchenne community to come together and take action. Run For Our Sons teams and fans participate in major marathons and half marathons around the country and inspire crowds to go the distance to end Duchenne. In towns and cities all over America, families, friends, churches, and schools host family fun runs, 5Ks, and 10Ks to raise awareness of Duchenne. Our website, RunForOurSons.org, makes it easy for runners, “spirit” runners, families, and friends to go the distance for Duchenne research and treatment.

Duchenne FACES FACES stands for Families Advocating, Connecting, Educating, and Supporting. Duchenne FACES is the official parent-led outreach initiative of PPMD. FACES outreach locations offer families affected by Duchenne and Becker a regional PPMD point of contact and serve as a volunteer extension of our central offices. FACES provides family mentoring, supports national awareness and advocacy campaigns, and helps raise money for PPMD. FACES groups continue to grow, with monthly meetings and events around the country.

Coach to Cure Parent Project Muscular Dystrophy has joined forces with the American Football Coaches Association for the Coach to Cure MD program (CoachToCureMD.org). Coach to Cure MD raises awareness during nationally-televised Saturday college football games and reaches millions of people in the process. Coaches at more than 350 colleges and universities have participated by wearing Coach To Cure MD armbands and by talking about Duchenne to the press and raising awareness on campus. Thanks to their efforts, hundreds of articles about Coach To Cure MD and Duchenne have appeared in national and local newspapers, blogs, and websites. Additionally, nearly 200 Coach To Cure MD events have taken place around the country— from Alaska to Florida and everywhere in between. Combined with grassroots support from local community high schools and junior leagues, Coach to Cure MD is a vital part of our efforts to create exposure and raise funds to fight this devastating disorder.

Social Media: Community Site, Facebook, twitter, YouTube Channel In 2008, PPMD launched www.Community.ParentProjectMD.org to unite families and friends online in a virtual world that offers robust discussions and opportunities to connect with people on similar Duchenne journeys. The community site—in combination with our Facebook fan page, Twitter, YouTube channel, and RSS feed—reaches more than 10,000 people and has become a critical communications tool and great fundraising resource, winning $75,000 in online, social media contests. In a time of instantaneous news, we have stayed at the forefront of technological advances to reach members of the Duchenne community when they want, where they want, and how they want. Our online community is a tremendous asset in our fight to end Duchenne. 20

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Get involved

Get involved today. There are so many simple, effective ways to support the work of Parent Project Muscular Dystrophy: • Make a donation;

• Get active on the PPMD community site;

• Join Striving to Impact Research (S.T.I.R.), our monthly giving plan;

• Contact your congressional representative;

• Invite others to make donations; • Host an event; • Host a Coach To Cure MD event; • Join or support a Run For Our Sons team;

• Teach others about Duchenne; • Attend the Annual Connect Conference; • Visit ParentProjectMD.org

• Sign up at DuchenneConnect.org;

Raise your voice— your voice to end Duchenne Maybe you’re a parent or sibling of a young man with Duchenne. Perhaps you’re a friend of a family affected by Duchenne. Maybe you’re a doctor, researcher, or caregiver. Perhaps you even have Duchenne yourself. Each of us has a voice in the fight to end Duchenne. Each of us has a story to tell. And every story is as unique as the person telling it. We are many voices. But we all want one thing: we want to end Duchenne. In this fight, we are all one voice. Raise your voice with us and support our efforts.

We must end Duchenne. And we will end Duchenne.

ParentProjectMD.org

22

to learn more.

ParentProjectMD.org


For the Years Ended December 31, 2009 and 2008

Unrestricted Net Assets

2009

2008

$ 2,074,573

$ 1,770,887

Program Revenue

63,705

60,209

Investment Loss

(2,651)

(1,615)

Revenue and Other Support Grants and Contributions

Interest and Dividend Income

156

3,136

1,957,766

2,087,505

4,093,549

3,920,122

3,005,106

3,633,050

Management and General Expenses

341,208

449,032

Fundraising Expenses

195,975

278,298

3,542,289

4,360,380

551,260

(440,258)

99,883

540,141

Fundraising Proceeds

(net of direct expenses of $508,582 and $681,383, respectively)

Total Revenue and Other Support

FINANCIALS

STATEMENT OF ACTIVITIES

Expenses Program Services

Total Expenses Increase (decrease) in Unrestricted Net Assets

Net Assets Net Assets, End of Period Copies of the full 2009 and 2008 audits are available upon request. See reverse side for Statement of Functional Expenses.

$

651,143

$

99,883

Parent Project Muscular Dystrophy ParentProjectMD.org

Net Assets, Beginning of Period


STATEMENT OF functional expenses For the Year Ended December 31, 2009 with Comparative Totals for 2008 Research Education Advocacy Salaries

Mgmt. & Fundraising General

2009 Total

2008 Total

$ 267,215

321,610

210

67,413

38,728

695,176

638,317

3,500

Contract Labor Payroll Taxes

24,618

25,514

6,210

3,568

59,910

58,476

Employee Benefits

17,567

17,567

18,588

Accounting Fees

2,500

53,936

15,000

71,436

74,253

30,597

134,139

19,715

184,451

368,866

334

3,726

4,060

92,636

Bank Charges

25,987

59,951

85,938

77,981

Interest Expense

35

35

329

Fees and Permits

6,761

6,761

18,835

Insurance

8,681

57,061

65,742

68,581

Outside Services

11,872

1,900

13,772

51,100

Expenses

1,060

7,298

150

29,756

9,304

47,568

51,268

Technology

8,728

19,092

27,820

172,653

Conferences and Meetings Legal Fees

Office and Computer

Rent

57,461

28,203

1,096

14,496

8,328

109,584

75,266

Postage and Shipping

20,325

2,904

5,807

29,036

38,682

DVDs and CDs

29,658

29,658

30,357

Printing and Publications

5,739

3,125

4,006

12,870

64,675

7,500

276,472

166,528

10,833

461,333

939,199

Telephone

28,996

413

4,090

8,180

41,679

34,859

Merchandise

14,243

14,243

12,324

105,091

9,022

20,835

6,042

140,990

251,270

Consulting Fees

Travel Entertainment

9,626

5,787

5,400

639

21,452

37,799

Translation

179,294

179,294

19,919

CDC Activity

258,423

258,423

23,757

503,502 1,362,261

188,112

333,533

Total Before Grants and Depreciation Grants

191,390 2,578,798 3,223,490

866,395

78,684

945,079

1,127,257

Depreciation

4,585

139

4,585

4,585

13,894

9,633

Federal Excise Tax

1,428

1,428

3,090

3,090

$ 1,369,897 1,445,530

189,679

341,208

Loss on Disposal of Equipment Total Functional Expenses

195,975 3,542,289 4,360,380

Parent Project Muscular Dystrophy ParentProjectMD.org

Meals and


John Killian, Chairman, Dallas, TX Robert Nutt, Treasurer, Bannockburn, IL Christine Piacentino, Secretary, Rochester, NY Neil Brandom, Newport Beach, CA David Drohan, Bluffton, SC Daniel Garofalo, Middlesex, NJ John Hiatt, Chicago, IL

BOARD AND STAFF

BOARD OF DIRECTORS

Howard Kaplan*, Riverwoods, IL Martin Karlin, Naperville, IL John Keast, Washington, DC Michael Lee, Louisville, CO Robert McDonald, Jefferson City, MO Heinrich Meerman, Houston, TX Donna Saccomano*, New Rochelle, NY * lifetime, non-voting board member

STAFF Pat Furlong, President, Chief Executive Officer Sharon Hesterlee, Ph.D., Senior Director of Research and Advocacy Holly Peay, MS, CGC, Senior Director of Outreach and Education Will Nolan, Director of Communications and Administration Ryan Fischer, Director of Community Outreach and Advocacy Laurie Cicalo Brian Denger Danielle Garrigan Janet Krakowski Stephanie Matthes Cecilia Matthes-Petersen Nicole Pielech

Parent Project Muscular Dystrophy ParentProjectMD.org

Kimberly Galberaith, Chief Operating Officer

PPMD's Annual Report 2009  

PPMD's Annual Report 2009

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