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On-Demand

Rare Disease Rounds

RDRS3 - Clinical Conundrums: cutting edge strategies for management of Hypoparathyroidism, X-Linked hypophosphatemia & Hypercholesterolemia

Saturday, November 29, 2025
09:15 - 10:30 Toronto
Location: Room 205

    Speaker(s)

  • Amanda Berberich, MD, PhD, FRCPC, Cert. Endo

    Assistant Professor/Endocrinologist
    Western
    Western University
    London, Ontario, Canada

    Disclosure(s): Amgen: Speaker/Honoraria (Ongoing); Ionis/Akcea: Advisory Board (Ongoing), Speaker/Honoraria (Ongoing); Ultragenyx: Speaker/Honoraria (Ongoing)

  • ALIYA KHAN, MD, FRCPC, FACP,FACE (she/her/hers)

    Professor of Clinical Medicine
    McMaster University
    McMaster University
    Oakville, Ontario, Canada

    Disclosure(s): Amolyt: Consultant (Ongoing), Research Grant (includes principal investigator, collaborator or consultant and pending grants as well as grants already received) (Ongoing), Speaker/Honoraria (Ongoing); Ascendis: Consultant (Ongoing), Research Grant (includes principal investigator, collaborator or consultant and pending grants as well as grants already received) (Ongoing), Speaker/Honoraria (Ongoing); Bridgebio: Consultant (Ongoing), Research Grant (includes principal investigator, collaborator or consultant and pending grants as well as grants already received) (Ongoing), Speaker/Honoraria (Ongoing)

  • Leanne Marie Ward, MD FRCPC

    Professor of Pediatrics, Research Chair in Pediatric Bone Disorders
    Children's Hospital of Eastern Ontario, University of Ottawa
    Children's Hospital of Eastern Ontario, University of Ottawa
    Ottawa, Ontario, Canada

    Disclosure(s): Kyowa Kirin: Consultant (Terminated, October 6, 2025); Ultragenyx: Advisory Board (Ongoing), Consultant (Ongoing)

    • Moderator(s)

  • Yuan Kong, MD (she/her/hers)

    Physician
    Markham Diabetes
    Markham, Ontario, Canada

    Disclosure(s): I do not have a relationship with a for-profit and/or a not-for-profit organization to disclose

Disclosure(s):
Amanda Berberich, MD, PhD, FRCPC, Cert. Endo: Amgen: Speaker/Honoraria (Ongoing); Ionis/Akcea: Advisory Board (Ongoing), Speaker/Honoraria (Ongoing); Ultragenyx: Speaker/Honoraria (Ongoing)
ALIYA KHAN, MD, FRCPC, FACP,FACE: Amolyt: Consultant (Ongoing), Research Grant (includes principal investigator, collaborator or consultant and pending grants as well as grants already received) (Ongoing), Speaker/Honoraria (Ongoing); Ascendis: Consultant (Ongoing), Research Grant (includes principal investigator, collaborator or consultant and pending grants as well as grants already received) (Ongoing), Speaker/Honoraria (Ongoing); Bridgebio: Consultant (Ongoing), Research Grant (includes principal investigator, collaborator or consultant and pending grants as well as grants already received) (Ongoing), Speaker/Honoraria (Ongoing)
Leanne Marie Ward, MD FRCPC: Kyowa Kirin: Consultant (Terminated, October 6, 2025); Ultragenyx: Advisory Board (Ongoing), Consultant (Ongoing)
Yuan Kong, MD: I do not have a relationship with a for-profit and/or a not-for-profit organization to disclose

Learning Objectives:

  • Recognize the clinical presentation and diagnostic criteria for homozygous familial hypercholesterolemia;
  • Evaluate and apply current standard and emerging management strategies for patients with HoFH to optimize patient outcomes and quality of life;
  • Describe current approaches to the diagnosis and management of hypoparathyroidism;
  • Evaluate indications for parathyroid hormone (PTH) replacement therapy and apply appropriate protocols in clinical practice;
  • Analyze innovative diagnostic techniques for identifying PHEX gene variants in individuals with de novo x-linked hypophosphatemia (XLH);
  • Design optimized medication strategies to improve health outcomes in pediatric patients with XLH.