Conference

Garrod Symposium
Friday, May 13, 2022

7:00–8:00 AM

Registration and Breakfast (Main Foyer)

Plenary Session I – Gene Therapy Trials – Current Approaches & Progress 

 

Session Chair: Matthew Lines

(Wildrose Room Centre & South)

8:00–8:45

Cisterna Magna delivery 

Heather Leigh Gray-Edwards DVM, PhD

Assistant Professor, Department of Radiology

Horae Gene Therapy Center, UMass Chan Medical School

By attending this session participants will be able to:

  • List the current methods for delivery of AAV vectors to the brain, and describe their limitations.

  • Recognize the potential for safe and reliable delivery of AAV vectors via the cisterna magna.

  • Distinguish the differences in AAV tissue distribution between cisterna magna and intrathecal delivery.

8:45–9:15

Pre-clinical gene trials – from bench to bedside 

Jagdeep S Walia, MBBS, FRCPC, FCCMG, Secretary/Treasurer of Garrod Association

Clinical Geneticist and Professor, Director of Research (Department of Pediatrics), Kingston Health Sciences Centre and Queen’s University, Kingston, ON

By attending this session, participants will be able to:

  • List at list three metabolic conditions that can potentially be treated by Gene therapy

  • List three main advantages of gene therapy

  • List at least three concerns with gene therapy

 

9:15–9:45

Gene Therapy for GSD Ia 

John Mitchell, MD

Associate Professor, Department of Medicine, McGill University

By attending this session, participants will be able to:

  • Recognize risks/benefits of adeno associated viral gene therapy

  • Identify the challenges to restoring homeostasis in GSD IA

 

9:45–10:15

Refreshment Break and Exhibits

(Main Foyer)

Plenary Session II – Ethics & Economics of ATPs 

Session Chair: David Sinasac

10:15–11:30

Panel Discussion

The panellists will present through examples, discussion, audience participation and responses to submitted questions on the following topic:

The term Advanced Therapeutic Products (ATPs; a.k.a., Advanced Therapy Medicinal Products or ATMPs) describes the new class of therapies based on biologics including genes, cells or tissues, medical devices including 3D printed materials, or any combination of such therapies.  Due to their inherent complexity, ATPs have not readily fit into the existing legislative framework, making attaining regulatory approval difficult.  Health Canada is in the process of developing a new flexible framework that is said will ensure patient safety, product quality, efficacy and effectiveness, while also promoting innovation and reduce barriers to bringing such products to market. The ever-growing market of new therapies, however, particular those for rare diseases that fall within the orphan drug category, will continue to present challenges for approval, listing, reimbursement and ultimate availability for patients, as the current pricing structure, budgetary pressures, and private-sector profit model put real constraints on sustainability.

 

By the end of this plenary session on the Ethics and Economics of ATPs, participants will be able to:

  • Explain the current challenges faced by the regulatory approval process including the impact of classification/categories of Health Canada approvals on international research collaborations.

  • Evaluate the arguments used by industry to justify the cost of new therapies seeking approval, and describe the role that health technology assessment plays in setting cost.

  • Distinguish between drug approval and drug listing for reimbursement, including who is involved in the decision-making process and the expected timeline from approval to listing on provincial/territorial formularies.

  • Recognize the role that stakeholders and subject matter experts play in the evaluation and approval process.

  • Realize the economic impact that high-cost medications have on a publicly funded healthcare system.

  • Describe newer models for priority setting and decision making that governments and private payers could take to allocate limited budgets for medications including how real-world evidence and post-marketing surveillance data can inform such decisions.

  • Identify potential opportunities for members of our society to be directly involved in this process. 

 

Moderator:

Lorian Hardcastle, JD, LLM, SJD (doctorate)

Associate Professor

Faculty of Law and Cumming School of Medicine

University of Calgary

Panelists:

Cheryl Rockman-Greenberg, MD, CM, FRCPC, FCCMG

Distinguished Professor Departments of Pediatrics & Child Health and Biochemistry & Medical Genetics University of Manitoba and Clinician Scientist, Children’s Hospital Research Institute of Manitoba, Winnipeg, MB

 

Bartha Maria Knoppers, PhD

Professor Department of Human Genetics, McGill University

 

Larry D. Lynd, PhD, BSP

Associate Dean, Research, Professor, Faculty of Pharmaceutical Sciences, University of British Columbia

11:30–12:15

Platform Presentations (3–15 minutes each) 

Session Chair: Christy Gilkes

(Room: Wildrose Centre & South)

11:30–11:45

Elucidating the role of sphingolipids in the pathogenesis of hepatocellular adenoma linked to GSD Ia

Jae Yeon Park, Dwight Koeberl, Farah ElTurk,  John Mitchell

11:45–12:00

Effect of Creatine Supplementation on AGAT Expression and Metabolic Intermediates in GAMT-Deficient mice

Ilona Tkachyova, Madeleine Hall, Joshua Atienza, Haneen Ali, Jens Feugman, Nico Guischard, Andreas Schulze

12:00–12:15

Triheptanoin for the Treatment of Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD): Final Results of an Open-Label, Long-Term Extension Study

Jerry Vockley, Barbara Burton, Gerard Berry, Nicola Longo, John Phillips, Amarilis Sanchez-Valle, Kimberly Chapman, Pranoot Tanpaiboon, Stephanie Grunewald, Elaine Murphy, Xiaoxiao Lu, Syeda Rahman, Kathryn Ray, Antonio Nino Ramirez

12:15–1:15

Lunch

(Main Foyer)

1:15–1:45

Dessert and viewing exhibits

(Main Foyer)

 

Plenary Session III – Novel Approaches to Therapy 

Session Chair: Florin Sasarman

(Room: Wildrose Centre & South)

 

1:45–2:30

Genetic Approaches to treat mtDNA Diseases 

Carlos T. Moraes, PhD

Esther Lichtenstein Professor in Neurology

Depts. of Neurology and Cell Biology

University of Miami Miller School of Medicine

By attending this session participants will be able to:

  • Discuss the cause of a subgroup of mitochondrial diseases

  • Identify the current gene therapy approaches to correct mtDNA mutations

  • Recognize the barriers to use gene therapy in patients at the moment

2:30–3:00

Lipid Nanoparticle - mRNA (LNP-mRNA) therapies for inborn errors of metabolism. 

Aneal Khan, MSc, MD, FRCPC, FCCMG

Adjunct Professor, Department of Pediatrics

University of Calgary and

M.A.G.I.C. Clinic and Discovery DNA Laboratory

Calgary, Alberta

By attending this session participants will be able to:

  • Discuss technological place in therapy for LNP-mRNA for metabolic diseases.

  • Review the clinical response to LNP-mRNA.

  • Discuss the strategies to improve long-term expression in LNP-mRNA therapies.

3:00–3:30

Epigenetic mechanisms in the cblC inborn error of vitamin B12 metabolism 

David S. Rosenblatt, MD

Professor, Departments of Human Genetics, Medicine, Pediatrics, and Biology

McGill University

By attending this session participants will be able to:

  • Recognize the clinical and molecular heterogeneity of the cblC inborn error of vitamin B12 metabolism

  • Discuss the complexity of the regulation of MMACHC

  • Discuss the mechanism of a secondary epimutation causing cblC

 

3:30–4:00

In-utero enzyme replacement therapy for a fetus with Infantile Onset Pompe Disease (IOPD) 

Pranesh Chakraborty, MD, FRCPC (Pediatrics and Medical Biochemistry), FCCMG

Associate Professor, Department of Pediatrics, University of Ottawa

By attending this session, participants will be able to:

  • Discuss the rationale for in utero enzyme replacement therapy for lysosomal storage diseases

  • Describe the first international experience with IUERT for a fetus with IOPD

  • Describe the Phase 1 trial of IUERT for LSDs centred at the University of California at San Francisco

4:00–4:30

Refreshment Break and Exhibits

(Main Foyer)

4:30–6:00

Poster Walk & Light Refreshments

(Wildrose Room North)

 

Friday Gala Dinner transportation

 

6:15 / 6:45

Bus Leaves for Bell Music Centre

(or walk ~25 minutes)

See below for details about the scheduled tours

 

6:45

Doors Open @ Bell Music Centre

 

7:00

Tours begin @ Bell Music Centre

 

There will be two half-hour tours, each consisting of two groups of 25 people, at 7:00 and 7:30. Check your tickets after receiving them from the registration desk to determine which tour time you have been assigned.  Buses for each timed tour are indicated above.  Hors d’oeuvres and a bar set up outside of the performance hall will also be available prior to the start of the dinner.

 

8:20

Gala Dinner Introductions - Dinner beings

 

8:40

Announcement of Garrod Grant, Presentation and Poster Awardees

 

9:30

Pioneer Award

 

10:00

Entertainment

 

11:00 PM

Close - Bus back to the hotel