Speakers: 

Dr. Madeline Parker
Dr. Ahmed Jamjoom
Dr. Kim McBride
Dr. Anika Menetrey

The diverse uses of the SGLT2 inhibitor Empagliflozin in the metabolic clinic
Speaker: Dr. Madeline Parker

Details coming soon

Neurological outcomes in children with glutaric aciduria type 1: a retrospective chart review
Speaker: Dr. Ahmed Jamjoom

This presentation will describe neurological outcomes in children with Glutaric Aciduria Type 1 followed at a tertiary metabolic center. We will review clinical, biochemical, molecular, and management-related variables and their association with neurological outcomes. The presentation will highlight patterns of neurological injury, the role of metabolic control and treatment adherence, and implications for optimizing long-term neurodevelopmental outcomes in GA1. Findings from this retrospective cohort will inform clinical monitoring and management strategies in this rare neurometabolic disorder.

At the end of the session, participants will be able to:

  • Identify neurological outcomes observed in children with Glutaric Aciduria Type 1 diagnosed through newborn screening and longitudinal follow-up.
  • Compare neurological outcomes based on metabolic control, treatment adherence, and clinical management strategies in GA1.
  • Describe clinical and biochemical factors associated with adverse neurological outcomes in children with GA1.

Target audience: Clinical Geneticists, Genetic Counsellors, Trainees
CanMEDS roles: Medical Expert (the integrating role), Collaborator, Scholar

I am a Clinical Biochemical Genetics fellow at the Hospital for Sick Children, currently completing a combined Genetics and Metabolics fellowship. Prior to fellowship, I completed my Pediatric Residency training at the same institution.

Treatment with UX111 reduced cerebrospinal fluid (CSF) heparan sulfate (HS) exposure and stabilized or improved functioning across age and stage of MPS IIIA
Speaker: Dr. Kim McBride

Details coming soon

Genetic Landscape in Niemann-Pick Disease Type C: Insights from the INPDR Registry & Prevalence and Phenomenology of Movement Disorders in Niemann-Pick-Disease Type C. Findings from the International Niemann-Pick-Disease Registry (INPDR) (combined)
Speaker: Dr. Anika Menetrey

Details coming soon

Event Timeslots (1)

Day 4
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Speakers: Dr. Madeline Parker, Dr. Ahmed Jamjoom, Dr. Kim McBride, and Dr. Anika Menetrey