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 Discover the Voices Behind the Vision

Get ready to be inspired, informed, and empowered. Building Bridges 2025 brings together leading voices in inherited metabolic disorders—clinicians, researchers, advocates, and lived-experience leaders—who are shaping the future of care, connection, and innovation. From groundbreaking therapies and policy insights to family-focused strategies and wellness, our diverse lineup of speakers will spark conversation, challenge perspectives, and ignite action. Whether you're a medical professional, a caregiver, or a community member, this is your chance to learn, share, and grow—together.

Beyond the sessions, enjoy ample opportunities for socialization and networking over shared meals, engaging poster walks, vendor booths showcasing the latest resources, and dedicated breaks designed to connect you with others. Participate in activities that enrich your experience and deepen community bonds. Dive into the sessions and events that are building bridges across disciplines, generations, and experiences.

Building Bridges 2025 – Speaker Lineup & Topics

This agenda has 3 sections. Please scroll down to find applicable sections.

Professional Conference - Thursday 1 PM - Thursday 7 PM and Friday 8AM - 1 PM

Professional and Family Conference - Friday 1 PM - Friday 7 PM and Saturday 8 AM -  8:30 PM

Family Conference - Sunday 8AM - Sunday 11 AM

Building Building - Professional Conference

Thursday August 21, 2025 - Scientific Conference

12:00 PM - Check In Opens

1:00 PM - Welcome and Opening Remarks

Nicole Pallone, Chair of the Board and Tour Guide of the Bridges for this Event.

1:15PM - Evolving Therapies in Inherited Metabolic Disorders: Innovations & Interventions

Dr. Aneal Khan, MD, MSc, FRCPC, FCCMG, will bring his extensive clinical and research expertise to explore the latest advancements in treatment strategies for these rare conditions, highlighting breakthroughs in treatments, enzyme replacement, gene therapy, and other emerging interventions. Drawing on decades of experience and patient-centered care, he will discuss how innovations are reshaping the landscape of metabolic care and improving long-term outcomes. This session aims to inform and empower both clinicians and families navigating the evolving therapeutic terrain.

Q&A and Discussions

2:15 PM - Research Presentations from Therapeutic Companies 

2:15 PM - Biomarin - Marie-Josee Toutounji 

2:35 PM - Otsuka - (JNT-517) Dr. Fernanda Leal-Pardinas, MD, MSc

2:55 PM - AlltRNA - (AP003) tRNA Medicines Nerissa Kreher, MD, MBA

3:15 PM - Q&A and Discussions with these 3 three Presentations.

3:30 PM - Nutrition Break

 4:15 PM -  iRare Centers 

John Adams, will present on the iRARE Centres for Rare Disease, an innovative initiative designed to provide information, support, and connection for individuals and families affected by rare conditions. Dr. Ouellette has shared the slides regarding the vision behind both the Quebec-based and newly launched national iRARE Centres. This session will highlight how the centres empower the rare disease community by bridging gaps between patients, healthcare professionals, and researchers across Canada. We thank Dr. Gail Ouellette, PhD, MSc for the slide deck presentation; and John for stepping in due to her schedule change.

 Q&A and Discussion

5:15 Closing Remarks

6:00 PM Welcome Reception and Poster Walk with Presenters.

Friday August 22nd, 2025 - Scientific Conference

8:00 AM - Breakfast

9:00 AM - Welcome Address 

Nicole Pallone - Chair of the Board and Tour Guide of the Bridges.

9:10 AM - Bridging Research, Industry, and Care: Advancing Clinical Trials Access for Allied Disorders

9:10 AM - Unlocking Access: Navigating the Pathways to Clinical Trials in Canada" Alexander Lim, MPH, LLM, from Canada’s Accelerating Clinical Trials (ACT) Consortium and Susan Marlin CanReview, as they explore the evolving infrastructure supporting clinical trial access for rare disease communities. This session will highlight efforts to streamline trial participation, reduce barriers for families, and ensure Canadian patients are not left behind in therapeutic advancements. A unique opportunity to discuss how collaborative models are bridging the gap between research, regulation, and real-world care. Together, we’ll examine how families, clinicians, researchers, and industry can bridge the gaps between discovery and care—ensuring that trials reach those who need them most.

10:00 AM - Defining What Matters: Core Outcome Sets in PKU Research

Dr. Beth Potter, PhD, MSc, (University of Ottawa) shares insights into the development of Core Outcome Sets (COS) for Phenylketonuria (PKU)—a collaborative effort designed to standardize and prioritize the outcomes that matter most to patients, families, clinicians, and researchers. This initiative in partnership with stakeholders including Nicole Pallone, part of CanPKU+ leadership, aims to improve the quality, comparability, and patient-centeredness of PKU research. Through a research-focused lens, we will explore how COS can drive better trials, inform clinical practice, and ultimately, support stronger policy and care.

10:45 AM - Panel Discussion and Q&A

This engaging panel brings together Alexander Lim, Susan Marlin, and Dr. Beth Potter for a dynamic discussion on the evolving infrastructure supporting rare disease research and clinical trial access in Canada. With a shared commitment to collaboration, equity, and patient-centered care, these leaders will explore how we can streamline ethics reviews, strengthen trial design, and prioritize meaningful outcomes—ensuring families and clinicians are not left behind in therapeutic and policy advancements. Together, they will highlight how research networks, regulatory innovation, and community partnerships are reshaping the future of rare disease care.

11:45 AM - Bridging Care: Strengthening Clinic and CanPKU+ Partnerships

This session explores the dynamic relationship between metabolic clinics and CanPKU+. Together, we will reflect on the strengths of our current collaborations and identify opportunities for improvement. We aim to enhance communication, streamline support services, and build a more cohesive network that better serves families living with PKU and allied disorders.

12:00 PM Lunch and Self Guided Poster Walk

Building Building - Professional and Family Conference

Friday August 22nd, 2025

1:00 PM - Bridging Conference - Welcoming families and welcome back professionals

Nicole Pallone - MC - Welcome everyone back/or to Building Bridges

1:15 PM - Guiding the Way: ACGM Guidelines & the Future of PKU Care

Dr. Kim McBride will explore the American College of Medical Genetics (ACMG) guidelines for the management and treatment of PKU; Catherine Rombough RD, BScFNH, Calgary AB will take a look at the GMDI and SERN Nutritional Guidelines for PKU and MSUD, through both a clinical and community lens. This session offers an opportunity to understand the rationale behind the recommendations and to reflect on their application in a Canadian healthcare context. Attendees will be encouraged to consider how these standards align—or diverge—from local practice, and what this means for patients, families, and providers navigating rare metabolic conditions in Canada.

Bridging the Gap: Where Are the Guidelines for Our Allied Disorders?

While PKU benefits from established ACMG treatment guidelines, allied disorders such as UCD, HCU, and MSUD remain without dedicated North American clinical protocols. This session will explore what currently guides care, international efforts that may fill the void, and how we can bring a Canadian lens to improving standardization, equity, and evidence-based support for all rare metabolic conditions.

2:00 PM - Newborn Screening in Canada: Challenges and Opportunities Across Inherited Metabolic Disorders

2:00 Newborn Screening: Every baby deserves the best start in life

Dr. Iveta Sosova  leads discussions to examine the current landscape of newborn metabolic screening across Canada. We will explore provincial disparities, such as the limited detection of homocystinuria (HCU)  and discuss how the implementation of second tier testing can improve screening performance.

2:25 - When the System Misses: A Family's Experience with Newborn Screening for HCU

Melanie Colter will join the discussion to talk about how newborn screening let their son down. We will review Quebec’s urine-based approach that relies on the parents to add to the newborn screening process. (Discontinued in April 2025) The panel will also address nationwide screening for MSUD and PKU, and the complexities surrounding UCD detection. 

The goal is to help identify actionable strategies to enhance early diagnosis and ensure equitable access to life-saving newborn screening for all rare inherited metabolic disorders.

2:40 - Q&A Session

2:50 PM - Break - Visit Booths - Self Guided Poster Walk

3:15 PM - Building Data Bridges: Advancing Rare Disorder Patient Registries 

This session will provide an overview of patient registries for rare inherited metabolic disorders, including the Canadian PKU Registry and registries for allied disorders such as UCD, HCU, and MSUD found elsewhere in North America. 

3:15 PM -  Exploring the Rare X - HCU Registry

Brittany Parke from HCU Network America will provide an overview of the Global Genes/Rare-X registry for HCU patients.  They will discuss the challenges in data collection, collaborative efforts and highlighting some of the information collected and advances because of it.

3:35 PM - Exploring the Canadian PKU Registry 

Dr. Beth Potter will spotlight the InformRare/CanPKU+ PKU Canadian Registry for the pediatric population, highlighting its role in advancing research, clinical care, and patient outcomes for children living with PKU. We will explore the ongoing efforts to expand the registry to include adult patients, creating a comprehensive lifecycle database. Attendees will learn how this expansion supports longitudinal studies, improves treatment approaches, and strengthens the community’s voice in research and healthcare planning.

3:50 - Q&A

4:00 PM - Spanning the Divide: Connecting Lived Experience with Research Design

Join us for an inspiring and practical session exploring how patients, youth, and caregivers are not just participants—but partners—in shaping meaningful research. Drawing from the experiences of the INFORM RARE Research Network, this session will highlight how lived experience can guide the development of tools like pediatric trial reporting guidelines. Maureen Smith, a long-time patient partner, shares her perspective in a special video clip, reflecting on co-authoring the paper "Involvement of young people and family caregivers in developing paediatric randomised trials’ reporting guidelines: experiences, impact, and enablers." Tanya Chute Nagy, also co-author to this work, will be joined by Beth Potter, Nicole Pallone and Norah Peterson with their participation in joint projects with Research and Lived Experience, for Q&A, sharing how meaningful engagement—especially of youth and families—can transform rare disease research. This session is ideal for patients, caregivers, researchers, and clinicians interested in elevating community voices in research design and delivery.

4:20 PM - Q&A  

4:30 PM-  Crossing the Advocacy Gap: The River of Rare Disease in Canada 

John Adams will be reintroduced to participants in a role that perfectly highlights his skills, passion and dedication, our newly formed position of Advocacy Advisor. This session will update on critical advocacy efforts shaping access to treatments and support for patients in Canada including the ongoing Palynziq campaign aimed at securing access for Canadians currently reliant on private coverage, the barriers in place for government funding and international tariff policies on medical foods and formulas, and the broader challenges faced in accessing rare drugs nationwide for Canadians. The segment will also cover efforts to redefine medical foods and formulas within regulatory frameworks. Together we will explore how patient advocates, clinicians, and policy leaders are working together to span the gaps between research, policy, and access to care. Advocacy in Canada for rare diseases is no easy path. Cover Health Canada’s approval process in advocacy session

5:15 PM - Sessions Conclude

You’re free to make your own dinner plans for the evening—there won’t be any other scheduled activities during this time.

7:00 PM - (Virtual) StoryTime Evening - Memoirs of My Journey to Motherhood: With Maternal PKU Author Amanda Horner hosts a moving and empowering Storytime Evening with author and rare disease advocate Amanda Horner, as she reads from her deeply personal memoir, "Memoirs of My Journey to Motherhood with Maternal PKU. Diagnosed at birth in 1986 , with phenylketonuria (PKU), Amanda was told throughout her life that pregnancy might never be possible. In this heartfelt session, she shares how determination, modern medicine, and hope helped her defy expectations and bring her dreams of motherhood to life—not once, but three times. Register in advance for this session at www.canpku.org/BBVirtual

Saturday - August 23, 2025

8:00 AM - Breakfast

9:00 AM - Welcome

9:15 AM - Feeding with Integrity: The Evolution of Medical Nutrition, Medical Formula, and Family Values

This session explores the journey of nutritional care in inherited metabolic disorders—from the early days of basic survival to today's more nuanced focus on quality of life, family-centered values, and holistic wellness. Through personal stories, scientific insight, and lived experience, we reframe how we might nourish and support individuals with PKU, UCD, HCU, and MSUD.

9:15 AM - From Survival to Sustainability: The Evolution of Medical Nutrition

Lynn and David, co-founders of Cambrooke and parents of children with PKU, share their personal and professional journey through the decades of change in food science, formula innovation, and family advocacy. A powerful reflection on how far we've come, this session traces the transformation of medical nutrition from emergency intervention to sustainable daily living. This discussion highlights practical ways to incorporate fresh, nutritionally valuable foods into low-protein diets. Explore how pairing natural ingredients with medical foods can enhance satiety, enjoyment, and nutritional variety—while staying within therapeutic boundaries.

Karen and Stephanie, RDs from Cambrooke Therapeutics will support onsite. - 

10:00 AM - Feeding the Brain, Fueling the Body: Holistic Wellness in Inborn Errors of Metabolism.

Dr. Jennifer J. Brown dives into both traditional knowledge and emerging science of plants as “superfoods” and a family-centric management of rare metabolic conditions.

10:20 AM - Q&A and Discussion Panel.

10:45 AM -  Break, Vendors and Self Guided Poster Walk

11:15 AM - Inside Out: Mental Health, Stress & Support in Rare Metabolic Disorders

Dr. Shawn Christ, PhD brings forward vital insights into the mental health challenges faced by individuals with rare inherited metabolic disorders, including PKU, MSUD, UCD, and HCU. Drawing on his research and clinical work, he explores the neurochemical underpinnings of anxiety, depression, and disrupted sleep patterns, and how these are amplified by the daily demands of managing a rare condition. He will also introduce a promising mobile app, an interventional 10-week remote support program designed specifically to address the unique needs of teens navigating these complex health landscapes. This session underscores the importance of accessible, proactive mental health care in the rare disease community.

12:00 PM - Lunch, Vendor Booths, Self Guided Poster Walk

1:15 PM - Welcome back.

1:30 PM - Bridging Generations: Carrier Trials Shaping PKU’s Future

This two-part session explores trials and groundbreaking research that is challenging the long-held belief that PKU carriers are unaffected.

1:30 PM - Are there cognitive, metabolic and health implications in genetic carriers of PKU?

Sophia Khan,MSc, PhD student* and Madison Fennell, MSc student* from University of Guelph, Department of Human Health and Nutritional Sciences, takes a closer look with us at how PKU carriers respond to elevated Phe and what it could mean for their brain health. A recruiting trial, Presents early findings from a University of Guelph study evaluating how PKU carriers respond cognitively after ingesting phenylalanine, shedding light on whether elevated levels impact their executive function and processing abilities 

1:50 PM - Mapping the Invisible: Brain Imaging and the Carrier Connection 

Dr. Shawn Christ will tell us how using  RI to uncover how phenylalanine affects the brains of PKU carriers—changing how we think about inheritance and impact. This presentation will expand the conversation with an imaging-based study that uses MRI technology to examine how phenylalanine is distributed in the brains of carriers. Together, these trials may influence future therapeutic strategies and change how we understand genetic inheritance and carrier health in PKU. 

2:20 Q&A and Discussions 

2:30 PM - Emerging Therapies: What’s on the Horizon for Rare Metabolic Conditions

Join us for a special session where leading industry partners will share updates on promising therapies currently in development or clinical trials for rare metabolic conditions. These presentations are designed specifically with families in mind—breaking down complex science into understandable language and offering insight into what the future may hold. This is a unique opportunity to hear directly from those working on the front lines of innovation, ask questions, and gain a clearer understanding of what’s in the research pipeline.

Industry Partners

2:30 PM - Disclaimer regarding some pharmaceutical companies limitations to speaking.

2:35 PM - Alltrna - Nerissa Kreher, MD, MBA

2:50 PM - PTC Therapeutics - Jasmine Turna, Snr. Medical Science Liaison (Virtual)

3:20 PM - Q&A

3:30 PM - Break, Vendors & Poster Walk with Presenters

3:30 PM - Spot On

4:00 PM - Break Out #1

4:45 PM- Break Out #2

5:25 PM - MC Presentation and Closing Remarks

6:00 PM Dinner

7:30 PM  - Community Social Hour: Poolside or Fireside

8:30 PM  - (Virtual) Storytime Evening - Survival Genes Stories: A Positive Spin on “Rare”.

Author Jennifer J. Brown hosts a provocative storytime with tales of the “rare” genes that allowed humankind to survive epic disasters in the past. A positive take on the history of rare genetic conditions, with readings from her new book When the Baby Is Not OK: Hopes and Genes. Register in advance for this session at www.canpku.org/BBVirtual

Sunday Aug 24 - Family Conference Agenda

8:00 - Breakfast

9:00 - Welcome

9:10 AM - Building Stronger Connections: Family Voices in Care and Community

Tanya invites individuals, families and caregivers to this interactive segment to share their experiences and insights on how CanPKU+ and clinics currently support them. We’ll explore what’s working well in care, communication, and community engagement, and identify areas where we can improve to better meet family needs. Your voice is vital in shaping the future of support services, resources, and advocacy.

9:30 AM - Breakout #3

10:15 AM - Breakout #4

11:00 AM - Closing Remarks 

11:15 AM - Snack and Goodbyes until next time. 

12:00 PM - Those left hanging around will be put to work tearing down!