PRESENTED BY

DEFEAT DUCHENNEFAMILY FORUM

VIRTUAL

Montréal, QuébecMay 2020

In Partnership With

WELCOMEIt’s my sincere pleasure to welcome you and your family to the first virtual Defeat Duchenne Family Forum on behalf of Jesse’s Journey Board of Directors. While nothing can replace the support and sense of community when coming together in person, the health and safety of you – those living with Duchenne and family members – is our priority.

We won’t let COVID-19 stop us from learning the latest in Duchenne care and research, so we’ve transformed the one-day program in Montréal, Québec, into a series of four virtual events open to all families across Canada. While Jesse’s Journey is known for its commitment to funding Duchenne research (over 11.5 million dollars have been granted to date) around the world, we’re also committed to providing parents and caregivers with education on research, treatments and clinical trials, along with information on living day-to-day with Duchenne. To further inform and unite the Duchenne community, we’ve created the Defeat Duchenne Family Forum. The four virtual bilingual events feature world-renowned experts in Duchenne research, clinical trials, and treatments. Duchenne-focused pharmaceutical companies will provide important updates, and we’ll educate and empower you in advocating Canadian lawmakers about Duchenne. Jesse’s Journey began as a grass-roots organization. Still, it has grown by building partnerships with community groups, non-profits, charities, and corporations with a shared vision to defeat Duchenne. It’s because of these partnerships that we’re able to host today’s event free of charge, and for that, we thank our sponsors, including presenting sponsor PTC Therapeutics.

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If there is anything you need from us throughout the four events or have feedback for us following the Forum, please don’t hesitate to reach out. We’re committed to your family to ensure we do all we can to advance our mission of funding vital research, creating awareness, and advocating on behalf of Canadian families.

Thank you,

Perry EslerExecutive DirectorJesse’s Journey

JESSE’S JOURNEYThis year marks the 25th anniversary that our founder, John Davidson, walked across Ontario to raise funds and awareness for Duchenne muscular dystrophy. Today, Jesse’s Journey is the only registered charity in Canada solely dedicated to funding Duchenne research and has granted more than $11.5 million to innovative projects around the world.

Duchenne is the most common fatal genetic disease diagnosed in childhood and affects approximately 1 in 5,000 boys. When John walked across Ontario, someone living with Duchenne had a life expectancy of late-teens, but thanks to research advancements, the life expectancy has increased to 25 years old. Be part of this incredible journey to #defeatduchenne.

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PRESENT ING SPONSOR

THANK YOU SPONSORS

GOLD SPONSOR

S ILVER SPONSORS

BRONZE SPONSOR

Italfarmaco | Catabasis | Pfizer

Audentes Therapeutics3

INTRODUCTION AT EACH EVENT

Rick Moss - Director of Strategic Partnerships, Jesse’s Journey

Marie-Catherine Duberger - President and Co-Founder, La Force DMD

WEDNESDAY, MAY 20, 2020 | 12 - 1 P.M. EST

Dr. Jacques P. Tremblay - Professor, Laval University “Genetics 101 & Duchenne”

SATURDAY, MAY 23, 2020 | 10 - 11:30 A.M. EST

Dr. Josée Larochelle - Pediatric PhysiatristAnne-Sophie St-Pierre-Clément - Social Worker “Transition to Adult Care”

Dr. Frank Rauch - Pediatrician, Shriners Hospital for Children – Canada “Bone Health”

WEDNESDAY, MAY 27, 2020 | 12 - 1 P.M. EST

Samuel Lachaine - Editor in Chief, Sports Addik “Living Life to the Fullest (With Duchenne)”

Gail Ouellette, Ph.D. - President and General Manager, RQMO “RQMO & Duchenne”

Nicola Worsfold - Director of Advocacy and Research, Jesse’s Journey “Jesse’s Journey Advocacy Plan”

SATURDAY, MAY 30, 2020 | 10 - 11:30 A.M. EST

Dr. Carole Abi Farah - CEO and Co-Founder, Clinical Trials Simplified “Clinical Trials 101 and Trials for Duchenne muscular dystrophy”

Dr. Eric Hoffman - Associate Dean for Research, School of Pharmacy and Pharmaceutical Sciences, Binghamton University “Vamorolone: Progress and Canadian Update”

Plus industry updates from PTC Therapeutics, Sarepta Therapeutics, and Catabasis Pharmaceuticals, TRiNDS - Italfarmaco, and Pfizer Canada

PLUS Q&A AT THE END OF EACH EVENT

AGENDA

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I n P r e s e n t a t i o n O r d e r

THANK YOU SPEAKERS

Key Note Speaker: Dr. Jacques P. Tremblay received a Ph.D. in Neuroscience from the University of California at San Diego in 1974. Since that time, he has been at Laval University as a postdoctoral researcher, Professor and Director of the Department of Anatomy. He is currently a Full Professor in the Department of Molecular Medicine. He has trained 61 master degree students, 21 Ph.D. students and 17 postdoctoral fellows.

He has published over 280 scientific articles and 538 presentations in congress, mostly on hereditary diseases. He has worked specifically on myoblast transplantation as a treatment for Duchenne muscular dystrophy. He has conducted a Phase I clinical trial of that potential therapy, and he is currently conducting a Phase I/II clinical trial of that therapeutic approach with Dr. Craig Campbell. For the last three years, he also worked on gene correction with the CRISPR/Cas9 technology for Duchenne muscular dystrophy, Friedreich’s Ataxia and Familial Alzheimer’s disease. This new exciting technology permits to correct mutations responsible for many hereditary diseases.

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Duchenne muscular dystrophy is the most common fatal

genetic disorder diagnosed in childhood

1 in every 5,000boys in Canada suffer from Duchenne

few of these young men will survive beyond their mid-20’s

Thousands of Canadian families are in a race against

time to find a cure for Duchenne

She has a clinical focus in neuromuscular disease, cerebral palsy, mild traumatic brain injury (concussion), movement disorder/hypertonicity and ultrasound guided botulinum toxin injections. Dr. Larochelle is also responsible for the neuromuscular disease training program and rotation for the Physical Medicine and Rehabilitation residency at Université de Montréal. She has a special interest in the transition from pediatrics to adult medical care and is involved in preparing a research project to guide populations with neurodegenerative diseases and cerebral palsy navigate the transition.

Dr. Larochelle joined the Physical Medicine and Rehabilitation team at CHU Sainte-Justine in 2017. She is a physiatrist subspecialised in pediatrics Physical Medicine and Rehabilitation from a fellowship at Sydney Children’s Hospital Network, which is affiliated with the University of Sydney in Australia. Previously, Dr. Larochelle had done her Master in Business Administration (MBA) and worked in the management of large-scale projects in the private sector.

Anne-Sophie St-Pierre-Clément holds a Bachelor in Social Services from Université de Montréal since 2012, as well as a Master in Social Services from UQAM in 2018. On a professional note, she was recruited by CHU Sainte-Justine in 2012 and started working at Joseph-Charbonneau specialized school. Since 2014, she works with the Neuromuscular Disease program at Centre de réadaptation Marie-Enfant (CRME).

With this work experience, she conceptualised her master project « la transition vers les soins adultes chez les jeunes ayant une maladie neuromusculaire : la vision de parents de l’autonomie de leur enfant » (transl : The transition to adult care in youth having a neuromuscular disease : parents’ viewpoint on the autonomy of their child.). She also participated twice in the television program Des familles comme les autres which airs on AMI-télé on the subjets of attaining majority and transmission of a genetic disease. 6

Dr. Frank Rauch focuses his research on bone health in children. As a pediatrician at the Shriners Hospital for Children - Canada, he follows one of the largest existing patient populations with osteogenesis imperfecta. His research on osteogenesis imperfecta investigates genetic causes, pathophysiology and medical treatment of this disorder.

This includes clinical trials on new pharmacological approaches in children and adolescents as well as translational studies in mice. He also has a longstanding interest in muscle-bone interaction, given that muscle action plays such an obvious role in skeletal development. He is currently the principal investigator of an epidemiological study that assesses muscle-bone interactions in a population-based study on 10,000 Canadians.

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Twenty-five years old living with Duchenne muscular dystrophy, Samuel Lachaine has never let Duchenne discourage him. He has tried to do everything he could to achieve his dreams, including attaining a Bachelor’s Degree in Journalism, and now owning his own sports broadcasting website.

He looks forward to sharing his experience at the Defeat Duchenne Family Forum: “If you never try something, you will never know if you can achieve it. Believe in who you are!”

DID YOU KNOWJesse’s Journey is a registered Candian charity and receives no government funding? We are entirely dependent on your individual and corporate donations to ensure we #defeatduchenne.

Geneticist (Ph.D. in genetics) and genetic counsellor, Gail Ouellette is the President and General Manager of the Regroupement Québécois des Maladies Orphelines (RQMO) and its iRARE Center (a rare disease information and support center).

She has offered - as a health professional and ex-researcher with knowledge, skills and contacts in the field of genetics - to help associations and individuals with rare diseases to pursue the mission of the RQMO which is: inform and support families affected by rare diseases via our iRARE Center; raise awareness in the medical community and the public regarding the specificities of rare diseases; disseminate and exchange information in the field of rare diseases, and bringing together patients and researchers to advance knowledge on rare diseases.

Nicola Worsfold spent the last 15 years working for the biotech and pharmaceutical industry starting in areas of infectious disease and hepatology, and later spent most of her time in medical affairs focused in neurology and rare disease. Her passion and career goals in the industry were always focused on putting the needs of individuals living with debilitating diseases as a priority.

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Little did she know she, too, would be fighting her own personal battle as rare disease advocate, as the parent of a child with Duchenne muscular dystrophy.Now as Director Research & Advocacy for Jesse’s Journey, Nicola has joined our fight to find a cure and advocate for timely access to treatments in Canada.

@defeatduchenne @jesses_journey @jesses_journey @jessesjourney

JOIN THE CONVERSATION ONLINE

Dr. Carole Abi Farah is the CEO and co-founder of Clinical Trials Simplified. She holds a bachelor degree in biochemistry from McGill University, a master’s degree in applied microbiology from the INRS-Armand-Frappier Institute and a PhD en sciences neurologiques from the University of Montreal. Following her PhD, Dr Abi Farah has done her postdoctoral studies at the Montreal Neurological Institute and Hospital. During the same period, she obtained her Graduate Diploma in Clinical Research from McGill University and she did her residency in clinical research at the Royal Victoria Hospital.

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DID YOU KNOWThat since 1995, Jesse’s Journey has granted more than $11.5 million to the most promising research projects around the world? Learn more about the projects and how you can support at jessesjourney.com.

Jesse’s Journey Research Projects Funded in 2019

Dr. Ronald Cohn, Sick Kids HospitalDr. Dongshen Duan, University of Missouri Dr. Patrick Gunning, University of Toronto MississaugaDr. David Mack, University of WashingtonDr. Frank Rauch, Shriners Hospital for Children - CanadaDr. Melissa Spencer, The Regents of the University of CaliforniaDr. Toshifumi Yokota, University of AlbertaDr. Lina Popplewell, Royal HollowayDr. Childers, University of WashingtonDr. Tremblay, Laval University

Dr. Michael Rudnicki, Ottawa Hospital Research InstituteDr. Gramolini, University of Toronto

Plus Two Collaborative Partnership Grants with Muscular Dystrophy Canada (MDC):

Dr. Eric Hoffman is a human geneticist and translational researcher focused on neuromuscular disease, and skeletal muscle tissue in health and disease. His most recent efforts focus on drug development and clinical trials in Duchenne muscular dystrophy. He received his PhD in Drosophila molecular genetics from Johns Hopkins University, was a post-doc at Boston Children’s Hospital and Harvard Medical School working on the identification of the DMD gene and protein, then led academic research groups at Harvard, University of Pittsburgh, and Children’s National Medical Center.

Currently, he is Associate Dean for Research, School of Pharmacy and Pharmaceutical Sciences, Binghamton University – SUNY, where he is building a research program focused on facilitating drug development at the academic/industry interface. In the private sector, he is co-founder and CEO of ReveraGen Biopharma, co-founder and Vice President of AGADA Biosciences, and co-founder and President of TRiNDS LLC; each company focuses on different aspects of orphan drug development. He serves on Scientific Advisory Boards of Foundation to Eradicate Duchenne, CureDuchenne Foundation, C3 Foundation, Save Our Sons Foundation, and Duchenne UK. Research accomplishments include identification of the dystrophin protein, developing molecular diagnostic methods for neuromuscular patients and families, defining the molecular pathophysiology of different types of muscular dystrophies, and development of experimental therapeutics approaches. His lab also identified the first voltage sensitive ion channel mutations in human disease, and first genetic causes of recurrent pregnancy loss. He is an inventor on nine patents, and has authored over 500 publications.

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Join Us: 2019/20 Research Grant AnnouncementMonday, May 25, 2020 | 7 - 8 p.m. EST | Zoom (register at jessesjourney.com)

Thanks to our loyal donors and supporters, Jesse’s Journey has been the leading funder of Duchenne research in Canada for the past 25 years. Through their support, researchers from around the world have made great strides, increasing the quality and longevity of life for people living with Duchenne. The pipeline of potential treatments has never been so full of promise and we invite you to learn about the 2019/20 Jesse’s Journey Research Grants.

Brett Billmeyer is a member of the patient engagement team at PTC Therapeutics. He unknowingly began his career as a patient advocate when he was diagnosed with a rare genetic disorder in 2009. After his diagnosis, he found that there were very few resources and no approved treatment for this disorder.

He knew that if he wanted to change the outcome of the disease, he had to advocate for himself and others with this disorder. In 2011, he found a clinical trial for his rare disease and was the first patient to participate in this trial. He participated in this trial for over four years until the drug was approved. He co-founded a patient advocacy organization to serve as a connection point between the patient community and the pharmaceutical company. He was the voice of his community. He travelled throughout the United States, Canada and Europe, educating the medical community about the disease, which is oftentimes misdiagnosed or undiagnosed. Over the past ten years, he has worked with several other rare disease communities and has helped them establish their own patient advocacy organizations. He has been working with the Duchenne muscular dystrophy community for the past four years. He continues to fight for the patient’s right of access to quality care and for their right to be treated with compassion and dignity.

INDUSTRY UPDATES

SPONSOR SPOTLIGHT: PTC THERAPEUTICS

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PLUS: Updates from Italfarmaco, Sarepta Therapeutics, and Catabasis

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R I C K M O S S

D I R E C TO RO F

S T R AT E G I C PA R T N E R S H I P S

N I C O L A W O R S F O L D

D I R E C TO RO F

R E S E A R C H &A D V O C A C Y

R O C H E L L E T E N H A A F

M A N A G E R O FM A R K E T I N G &S TA K E H O L D E RE N G A G E M E N T

P E R R Y E S L E R

E X E C U T I V ED I R E C TO R

BOARD OF DIRECTORS

Dr. Jeffery Preston (Chair) . Stephen Duench . Dr. Lisa Hoffman . Colin Yausie Joe Barnes . Frank Desrosiers . Peter Garland . Ted Lindsay . Al Matheson Ken Wilson . John Davidson (ex officio)

WE ARE HERE FOR YOU

M AT T G E N N A R O

C O O R D I N ATO R O F A D M I N I S T R AT I O N &

C O M M U N I T Y E N G A G E M E N T

EDUCATIONEmpower patients,

parents and caregivers by providing education

and support.

ENGAGEMENTBuild a ‘family of families’raising awareness and funds for Duchenne muscular dystrophy

across Canada.

ADVOCACYUnite our collective

voice to press for access to affordable

treatments.

RESEARCHContinue investing in the most promising research towards improving the lives of those affected

by Duchenne.

IN 2020 WE ARE FOCUSED ON

The families of thousands of boys in Canada are in a race against time to find a cure for Duchenne muscular dystrophy. For more information about Jesse’s Journey, education, advocacy, or how you can support ground-breaking research, please go to:

jessesjourney.com

THANK YOU

DEFEAT DUCHENNE. CHANGE LIVES.

KEEP IN TOUCH

1-519-645-8855

info@jessesjourney.com

420-195 Dufferin Avenue

London, ON N6A 1K7

jessesjourney.com

/DefeatDuchenne

@jesses_journey

JessesJourney

@jesses_journey