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ParentProjectMD.org

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

Parent Project Muscular Dystrophy401 Hackensack Ave., 9th FloorHackensack, New Jersey 07601

T. 800.714.5437

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PROGRESS REPORT

LeaDINg The FIghT To eND DUCheNNe

Dear friends, families, and supporters,

My son has Duchenne muscular dystrophy.

When Sam was first diagnosed, like so many

Duchenne families, we went through a period of

mourning. But then it was time to focus and put

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,

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

dealing with and what they could do to help.

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

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

determined group of parents and grandparents began working to raise

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

key was collaboration and teamwork.

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

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

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

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

same time earning PPMD the highest ratings attainable from nonprofit

watchdogs like the Better Business Bureau and Charity Navigator.

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

But now that we are all on this journey, I cannot imagine our lives without

Parent Project Muscular Dystrophy.

Best,

John Killian Board Chair Parent Project Muscular Dystrophy

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Dear PPMD Family,

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

families have struggled economically. And yet, because

of you—our dedicated, passionate community—even

during the worst financial period in recent American

history, our fight against Duchenne has not stopped. It

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.

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

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

publication of the Care Considerations, we now have a standard by

which physicians and caregivers can treat our children. The MD-CARE

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

Congress. We continue to raise money and awareness through

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

and through hundreds of grassroots events around the country.

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

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

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

evolving presence on Facebook. We host webinars that respond to

pressing issues in our community.

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

research, advocacy, care, and education.

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

Warm regards,

Pat Furlong President, Chief Executive Officer Parent Project Muscular Dystrophy

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Parent Project Muscular Dystrophy (PPMD) is the largest nonprofit

organization in the United States focused entirely on Duchenne muscular

dystrophy. We are the only Duchenne organization:

• To invest in a broad research

portfolio;

• To successfully leverage $15.4

million from the National Institutes

of Health (NIH) into a new drug

discovery program;

• To 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

muscular dystrophy research, with

$162 million specific to Duchenne;

• To convene topic-specific, care-

related workshops to better

understand the spectrum of issues

faced by those diagnosed with

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.

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

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

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

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

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

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

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

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

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• 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 first-ever Duchenne-specific bridging program, and the first NIH bridge- funding 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.R

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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.

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

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:

• PTC Therapeutic’s Ataluren completed a Phase IIb study;

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

• Prosensa began clinical development of a compound to skip exon 44;

• Biomarin began testing of its utrophin up-regulating compound in healthy volunteers;

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

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

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

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,

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

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

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

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

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HVOICES: Zachery Smith,

16 years old, Valrico, FL “ Thank you to my parents and the other families raising money to fund research for the scientists to help find a cure for me.”

current Project catalyst targets • Utrophin and muscle cell membrane integrity. Utrophin was selected as a target

to search for compounds that promote membrane stabilization. In the absence of

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

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.

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

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

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

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

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

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

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

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

Drug Development status

lead candidate Development Discover targets for drug therapy

1 2 lead Optimization Identify the most promising targets

3 Preclinical Development Synthesize and test compounds

4 clinical trials (Phase i, ii, iii) Test effectiveness of therapies

utrophin upregulator

lamin iii

biglycan

ataluren

igf1 upregulator

myostatin inhibitor

Project Catalyst Other PPMD-funded Resarch

serca2a upregulator

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Edward Tenthoff, Piper Jaffray

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

Jody Puglisi, Ph.D., Stanford University

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

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

Lee Sweeney, Ph.D., University of Pennsylvania

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

Ronald Meyer, Ph.D., Michigan State University

enD Duchenne Grant awarD PrOGraM (GaP) 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

for Duchenne.

summary of year-1 Funded Grants1. 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

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

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

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

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

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

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

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

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

scenario in a relatively short period of time.

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.

PPMD end Duchenne GaP scientific advisory Board

aDDitiOnal PrOjects FunDeD By PPMD 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

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

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

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

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

Project: influence of long-term myostatin inhibition on dystrophic cardiomyopathy This is a follow-on project to the gene therapy/myostatin inhibition to further

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

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

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

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

Project: increasing calcium buffering in mdx mice with over-expression of serca1a 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

skeletal muscle in Duchenne patients is a reasonable therapeutic approach.

Project: investigation of PGc-1a as a target and sirt1 activators 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.

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.

aDDitiOnal PrOjects FunDeD By PPMD (cOnt’D)

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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 micro-

dystrophin, 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.

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HTo help expand our drug development

and advocacy efforts, Sharon Hesterlee,

Ph.D., has joined PPMD’s staff.

Dr. Hesterlee, whose background is

in neuroscience, comes to us after

11 years at the Muscular Dystrophy

Association, where she developed

MDA’s translational research and

venture philanthropy programs

and brokered $28 million worth of

biotechnology contracts.

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

the Duchenne community’s belief in

what we are doing.”

Dr. Hesterlee sees

a transition in

thinking around the

development of

new drugs. “For

so many years,

companies were

only interested in

developing drugs for big markets.

It’s amazing to see the amount of

interest Duchenne is getting now,”

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

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.”

PPMD welcomes sharon hesterlee, Ph.D.

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TFor years, Parent Project Muscular Dystrophy has facilitated interactions

between families and members of Congress through our annual Advocacy

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

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

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

and from the National Institutes of Health (NIH).

• 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.

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.”

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

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

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

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

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

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:

• Promoting collaborations and providing shared

resources;

• Advancing basic research while stimulating

translational research;

• Fostering outreach activities;

• Developing greater patient awareness of

basic and clinical research and enabling their

participation in clinical trials;

• Facilitating the development of gene therapy for

the muscular dystrophies.

• National Institute of Arthritis and

Musculoskeletal and Skin Diseases;

• National Institute of Child Health and

Human Development;

• National Institute of Neurological Disorders

and Stroke.

The Centers’ goals are to provide an interactive environment that will advance knowledge of and

treatments for the muscular dystrophies by:

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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.”

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DuchenneConnect is a central

hub, linking patients, resources,

and industry professionals.

1,700 patient records

patients & families

doctors researcherspolicy

makersindustry

Duchenneconnect Patient Diagnosis

Duchenne

Becker

Unconfirmed

Confirmed Carrier

At Risk to be Carrier

Manifesting Carrier

81%

7%

6%

3%

2%

1%

Duchenneconnect Patient ambulation status

Walk without assistance

Do not walk

Use assistive devices

55%

30%

15%

60 countries

the natiOnal task FOrce FOr early iDentiFicatiOn OF chilDhOOD neurOMuscular DisOrDers To address the delay that families frequently experience between symptom onset and

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

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

a cooperative agreement from the CDC and includes representatives from:

• Parent Project Muscular Dystrophy;

• American Academy of Pediatrics;

• American Academy of Neurology;

• Childhood Neurology Society;

• American Academy of Physician Assistants;

• National Association of Pediatric Nurse Practitioners;

• National Society of Genetic Counselors;

• National Coalition for Health Professional Education in Genetics;

• Muscular Dystrophy Association;

• Cure CMD;

• SMA Foundation;

• Families of SMA.

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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

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;

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

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

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

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

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

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

illustrating early signs of neuromuscular weakness.

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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

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

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

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

providers, researchers, industry professionals, and policymakers.

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.

PPMD’s annual cOnnect cOnFerence What started almost two decades ago as a small group of parents gathering to discuss

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

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

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

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

understanding of the Duchenne landscape.

The PPMD Annual Connect Conference features presentations on such topics as:

• The Basics of Duchenne: Understanding the Diagnosis;

• Genetic Testing and DNA Sequencing;

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

• Practical Physical Therapy sessions;

• Behaviors in Duchenne;

• Coping and Living in the Present;

• Updates on Current and Forthcoming Clinical Trials;

• The Community Impact in

Washington, DC;

• Reports from the FDA and NIH;

• Duchenne Research Strategies and Timelines;

• Approved Drugs and Their Use in Duchenne;

• Living with Duchenne: Our Expert Panel;

• Family Dynamics.

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

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

expert presentations regarding Duchenne research during the comprehensive 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

research collaborations.

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

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.

scientific conference attendees of note:

1918

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.

VOICES: Joel 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.”

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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.

GET

INVO

LVED Get involved today. There are so many simple, effective ways to support the work

of Parent Project Muscular Dystrophy:

• Make a donation;

• Join Striving to Impact Research (S.T.I.R.),

our monthly giving plan;

• Invite others to make donations;

• Host an event;

• Host a Coach To Cure MD event;

• Join or support a

Run For Our Sons team;

• Sign up at DuchenneConnect.org;

• Get active on the

PPMD community site;

• Contact your congressional

representative;

• Teach others about Duchenne;

• Attend the Annual Connect

Conference;

• Visit ParentProjectMD.org

to learn more.

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

ParentProjectMD.org

22

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STATEMENT OF ACTIVITIES For the Years Ended December 31, 2011 and 2010

Unrestricted Net Assets 2011 2010

Revenue and Other Support

Grants and Contributions $ 5,195,537 $ 5,638,319

Program Revenue 77,571 58,075

Investment Loss (9,469) (61,638)

Interest and Dividend Income 9,589 3,773

Fundraising Proceeds 1,059,625 1,031,973

(net of direct expenses of $333,208 and $422,775, respectively)

Total Revenue and Other Support 6,332,853 6,670,502

Expenses

Program Services 5,216,305 3,678,123

Management and General Expenses 417,787 423,984

Fundraising Expenses 585,946 484,017

Total Expenses 6,220,038 4,586,124

Increase (decrease) in Unrestricted Net Assets 112,815 2,084,378

Net Assets

Net Assets, Beginning of Period 2,735,521 651,143

Net Assets, End of Period $ 2,848,336 $ 2,735,521

Copies of the full 2011 and 2010 audits are available upon request. See reverse side for Statement of Functional Expenses.

Parent P

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STATEMENT OF FUNCTIONAL EXPENSES For the Year Ended December 31, 2011 with Comparative Totals for 2010

Research Education Advocacy Mgmt. & Fundraising 2011 2010 General Total Total

Salaries $ 591,720 273,818 504 65,379 91,802 1,023,223 976,972

Payroll Taxes 53,705 21,073 – 6,077 8,533 89,388 75,391

Employee Benefits – – – 25,080 – 25,080 23,198

Accounting Fees – – – 101,291 16,500 117,791 86,703

Conferences

Legal Fees

7,675 – – 2,140 – 9,815 4,342

Bank Charges – – – 6,554 154,455 161,009 99,390

Interest Expense – – – 2 – 2 14

Fees and Permits 5,367 335 100 – 140,755 146,557 94,467

Insurance – 8,394 – 84,635 – 93,029 93,753

Outside Services 47,357 – – 5,224 25 52,606 2,750

Office and Computer

Technology 5,500 56,593 – 23,769 – 85,862 70,364

Rent 87,718 10,302 1,231 9,926 13,937 123,114 115,198

Postage and Shipping – 24,772 – 3,539 7,078 35,389 25,014

Printing and

Publications – 10,620 – 4,059 17,062 31,741 55,154

Consulting Fees

Telephone – 26,045 376 3,721 7,441 37,583 41,585

Utilities – – – 14,758 – 14,758 8,073

Merchandise – – – – 15,582 15,582 17,994

Travel 163,888 13,506 – 19,561 20,830 217,785 216,590

Meals and

Translation

– – – – – – 317,757

NIH Activity 2,244 – – – – 2,244 –

CDC Activity – 461,035 – – – 461,035 228,791

Total Before Grants

and Depreciation 1,133,030 1,224,018 193,211 414,685 583,455 3,548,399 3,343,663

Grants 2,663,480 – – – – 2,663,480 1,229,504

Depreciation – 2,491 75 2,491 2,491 7,548 12,797

Total Functional

Expenses

$ 3,796,510

1,226,509

193,286

417,787

585,946

6,220,038

4,586,124

Parent P

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and Meetings 10,918 251,119 84,280 – 346,317 279,588

Expenses 1,813 3,184 – 25,273 13,854 44,124 63,534

136,386 45,150 106,720 59,057 347,313 364,006

Meals and

Entertainment 18,739 18,072 – 13,697 16,544 67,052 83,035

Loss on Disposal

of Equipment – – – 611 – 611 160

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FFBOARD OF DIRECTORS Robert J. McDonald, MD, Chairman, Jefferson City, MO

John Killian, Treasurer, Dallas, TX

Daniel Garofalo, Secretary, Middlesex, NJ

Neil Brandom, Newport Beach, CA

David Drohan, Bluffton, SC

Anessa Gaydou-Fehsenfeld, Rockford, MI

John Hiatt, Chicago, IL

Howard Kaplan*, Riverwoods, IL

Martin Karlin, Naperville, IL

Heinrich Meermann, The Woodlands, TX

Robert Nutt, Darien, IL

Christine L. Piacentino*, Rochester, NY

James Poysky, PhD, Katy, TX

Donna Saccomano*, New Rochelle, NY

* lifetime, non-voting board member

STAFF

Pat Furlong, President, Chief Executive Officer

Kimberly Galberaith, Chief Operating 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 Rottino

Parent P

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Catherine Jones Collins, New York, New York

Bob Getler, Louisville, KY

Lance Hester, Gig Harbor, WA

Jasbir Seehra, PhD, Lexington, MA

Ann Martin, MS, CGC, Genetic Counselor & DuchenneConnect Coordinator

Jody Gabbard