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
Thursday, August 21, 2025 – Scientific Conference (Professionals Only)
Pioneering Breakthroughs: Advancing Therapies and Research in Metabolic Disorders
Setting the foundation for innovation through cutting edge clinical research and industry collaboration.
1:00 PM – Welcome and Opening Remarks
Nicole Pallone
Chair of the Board, Canadian PKU and Allied Disorders Inc.
Tour Guide of the Bridges for this Event
1:15 PM – Evolving Therapies in Inherited Metabolic Disorders: Innovations & Interventions
Dr. Aneal Khan, MD, MSc, FRCPC, FCCMG
Aneal Khan will explore the most current treatment strategies transforming the care of rare metabolic conditions—from enzyme replacement to gene therapy. Grounded in clinical research and compassionate care, this session sets the tone for an inspiring day of discovery.
Includes Q&A and facilitated discussion
2:15 PM – Research Presentations from Therapeutic Companies
-
PTC Therapeutics
Presenter: TBA -
Otsuka – JNT-517
Dr. Fernanda Leal-Pardinas, MD, MSc
Presenting early clinical research on JNT-517, a novel SLC6A19 inhibitor for PKU. -
AlltRNA – AP003
Dr. Nerissa Kreher, MD, MBA
Showcasing a new tRNA-based medicine for metabolic disorders.
Followed by Q&A and discussion with presenting companies
Friday, August 22, 2025 – Scientific Conference
Connecting Care and Community: Uniting Research, Guidelines, and Advocacy for Rare Disorders
Bridging gaps between science, clinical practice, and patient voices for a collaborative future.
9:10 AM – iRare Centres: Connecting Canada’s Rare Disease Community
Dr. Gail Ouellette, PhD, MSc, CGC
Discover how the Quebec-based and new national iRARE Centres are uniting patients, healthcare professionals, and researchers across Canada.
Q&A and discussion to follow
9:30 AM – Bridging Research, Industry, and Care
Unlocking Access: Navigating the Pathways to Clinical Trials in Canada
Alexander Lim, MPH, LLM – ACT Consortium
Susan Marlin – CanReview
RareKidsCan Representative
An in-depth look at Canada’s growing clinical trial infrastructure and how it can better serve families with rare disorders.
10:00 AM – Defining What Matters: Core Outcome Sets in PKU Research
Dr. Beth Potter, PhD, MSc – University of Ottawa
Learn how PKU research is evolving through stakeholder-driven outcome standardization, in collaboration with CanPKU+.
10:45 AM – Panel Discussion & Q&A
Dr. Beth Potter, Alexander Lim, Susan Marlin
A collaborative conversation on streamlining ethics, improving research quality, and making clinical trials more patient-centered and accessible.
1:00 PM – Bridging Conference Begins: Welcoming Professionals and Families
?? 1:15 PM – Guiding the Way: ACGM Guidelines & the Future of PKU Care
Dr. Kim McBride
Catherine Rombough, RD, BScFNH – Calgary, AB
A look at ACMG and GMDI/SERN nutritional guidelines for PKU and MSUD, and how they align with Canadian practice.
Subtopic: Bridging the Gap – Where Are the Guidelines for Our Allied Disorders?
PKU has clear clinical guidance—but what about UCD, HCU, and MSUD? This session outlines current references, gaps, and future opportunities.
2:00 PM – Newborn Screening in Canada: Challenges & Opportunities
Dr. Iveta Sosova
Melanie Colter – Parent Advocate
Dive into the disparities and limitations of newborn screening in Canada and explore how we can make it better for all metabolic conditions.
3:15 PM – Building Data Bridges: Advancing Rare Disorder Registries
Exploring the Rare-X HCU Registry
Brittany Parke – HCU Network America
Insights into data collection, cross-border collaboration, and impact of the Rare-X registry model.
Exploring the Canadian PKU Registry
Dr. Beth Potter
Details on the InformRare/CanPKU+ Registry for pediatric PKU patients and the future expansion to adults to support longitudinal research and care.
4:30 PM – Advocacy in Canada for Rare Disease: Progress, Challenges, and Leadership
John Adams – Advocacy Advisor, Canadian PKU and Allied Disorders Inc.
From drug access and tariff barriers to regulatory definitions of medical food, John Adams will provide an honest update on where Canada stands and what comes next.
Note: This session will evolve as advocacy issues develop.
Saturday, August 23, 2025 – Bridging Conference
Nourishing Lives and Minds: Integrating Nutrition, Mental Health, and Emerging Science
Exploring holistic approaches to care, family experiences, and promising therapies shaping tomorrow.
9:15 AM – Feeding with Integrity: The Evolution of Medical Nutrition & Family Values
This session explores the journey of nutritional care in inherited metabolic disorders—from early survival to today’s more holistic, quality-of-life approach.
From Survival to Sustainability
Lynn & David Paul – Founders of Cambrooke
Parents of children with PKU share their decades-long journey shaping medical nutrition, from personal challenges to global innovation and advocacy.
Elevating Mealtime with Wholesome Additions
Karen & Stephanie, RDs – Cambrooke Therapeutics
Practical insights on enhancing medical diets with natural ingredients, improving satiety, nutrition, and enjoyment—while staying within metabolic guidelines.
Feeding the Brain, Fueling the Body
Explore the gut-brain connection in IEMs, and how the microbiome may influence digestion, neurodevelopment, and long-term management strategies.
11:15 AM – Inside Out: Mental Health, Stress & Support in Rare Metabolic Disorders
Dr. Shawn Christ, PhD
Understand how inherited metabolic conditions impact brain chemistry, mental health, and quality of life—especially in teens. Includes a preview of a mobile intervention app tailored for youth.
1:30 PM – Bridging Generations: Carrier Trials Shaping PKU’s Future
Two groundbreaking sessions exploring whether carriers of PU are truly unaffected—and what this might mean for future therapies.
Are Carriers Unaffected?
Sophia Khan, MSc, PhD student & Madison Fennell, MSc – University of Guelph
Early findings from a trial evaluating cognitive effects of elevated Phe in PKU carriers.
Mapping the Invisible: Brain Imaging & the Carrier Connection
Dr. Shawn Christ, PhD
MRI-based studies show how Phe may affect brain function even in carriers—expanding our understanding of inheritance and treatment implications.
2:20 PM – Q&A and Discussion
2:30 PM – Emerging Therapies: What’s on the Horizon for Rare Metabolic Conditions
Hear directly from biotech and pharma representatives as they share family-friendly updates on clinical trials and promising new therapies in the pipeline.
4:15 PM – Breakout Session #1
Choose a topic of interest – Smaller group learning and discussion. (Topics & facilitators to be confirmed.)
4:45 PM – Breakout Session #2
Another opportunity to explore – Attend a second breakout on a different topic of interest.
Sunday, August 24, 2025 – Family Conference
Celebrating Community, Listening Deeply, Building Forward
Honoring family voices and shared journeys to inspire hope, connection, and lasting impact.
9:10 AM – Building Stronger Connections: Family Voices in Care and Community
Hosted by Tanya Chute-Nagy, CanPKU+ CEO
This interactive discussion invites individuals, families, and caregivers to share their lived experiences and feedback on how clinics and CanPKU+ are meeting their needs. What’s working well in care, communication, and community support—and where can we grow? Your input helps shape the next phase of advocacy, programming, and resources for all who walk this rare journey.
9:30 AM – Breakout Session #3
Choose your conversation! Break into focused small-group discussions tailored to your interests or challenges. (Topics to be announced onsite.)
10:15 AM – Breakout Session #4
Pick a second session—or continue the dialogue with new perspectives.