8:00 – 9:30 am PDT, 4:00 – 5:30 pm CET
Olivier Braissant – Service of Clinical Chemistry, Lausanne University Hospital, Switzerland
“AAV strategy to treat creatine transporter deficiency in the Slc6a8Y389C KI rat”
Rikke Birkedal – Tallinn University of Technology, Department of Cybernetics
“The effect of creatine deficiency on muscles and heart in AGAT and GAMT mice”
Lara Duran – CHUV-UNIL
“Slc6a8xY389C/y KI rat males exhibit motor dysfunction linked with muscle Cr deficiency without muscle atrophy and morphological alterations in cerebellum”
Q&A
9:30 – 10:30 am PDT, 5:30 – 6:30 pm CET
Elsa Ghiradini – CNR Institute of Neuroscience
“Tackling Creatine Transporter Deficiency: new insight into cell-specific vulnerability and development of a gene therapy approach”
Alex Kuan – University of Virginia School of Medicine, Department of Neuroscience
“The importance creatine transporter for maintaining the brain energetics and stress-adaptation homeostasis”
Madeleine Hall – The Hospital for Sick Children
“Effect of Creatine Supplementation on AGAT Expression and Metabolic Intermediates in GAMT-Deficient mice”
Q&A
10:45 – 11:45 am PDT, 6:45 – 7:45 pm CET
Aurore Curie – French National Reference Center for Rare Diseases with Intellectual Disability, Department of Child Neurology, Woman Mother and Child Hospital, Lyon University Hospital
“Efficacy judgment criteria for clinical trial in Creatine Transporter Deficiency”
Beth Potter – University of Ottawa
“Core outcome sets: engaging patients and families in consensus methods to identify the outcomes that matter most”
Mark Levin – NHLBI, NIH
“Cardiac abnormalities in patients and animal models of creatine transporter deficiency”
Q&A
12:00 – 1:00 pm PDT, 8:00 – 9:00 pm CET
Steve Baker – University of Utah
“GATM and GAMT synthesize creatine locally throughout the mammalian body and within oligodendrocytes of the brain”
Matthew Skelton – Cincinnati Children’s Research Foundation
“Examining executive function in creatine transporter knockout mice”
Gerald Lipshutz – David Geffen School of Medicine at UCLA
“Control of GAA and Restoration of Creatine Levels with Gene Therapy for Guanidinoacetate Methyltransferase Deficiency”
Q&A
1:00 – 2:00 pm PDT, 9:00 – 10:00 pm CET
Steven Gray – University of Texas Southwestern Medical Center
“AAV-mediated gene therapy for neurological disorders”
September 11, 2021
8:00 am – 2:00 pm Pacific Daylight Time, 4:00 – 10:00 pm Central European Time
8:00 – 9:30 am PDT, 4:00 – 5:30 pm PST
Aloise Mabondzo – CEA
“Non-Invasive Nose-to-Bain Delivery of CBT101 Highlights a Widespread Brain Creatine Content in Non Human-Primates”
Nicola Longo – University of Utah
“Small molecules for the treatment of GAMT deficiency”
Alex Lee – University of Toronto
“Identifying the mechanism by which creatine represses expression of AGAT”
Claire Steppan – Pfizer
“Unlocking Solute Carriers Transporters: an impact on the scientific community”
Q&A
9:30 – 10:30 am PDT, 5:30 – 6:30 pm CET
Lara Gechijan – Jnana Therapeutics
“A novel corrector for variants of SLC6A8: a therapeutic opportunity for Creatine Transporter Deficiency”
Peter Axerio-Cilies & Sylvia Stockler – BC Children’s Hospital
“Towards the Discovery of Small Molecules that Restore Function to Defective SLC6A8 Creatine Transporter Variants”
Jonathan Schlebach & Charles Kuntz – The Schlebach Lab at Indiana University
“Towards the Discovery of Small Molecules that Restore Function to Defective SLC6A8 Creatine Transporter Variants”
Q&A
10:45 am – 1:00 pm PDT, 6:45 – 7:45 pm CET
Marzia Pasquali – University of Utah/ARUP Laboratories
“Cerebral Creatine Deficiency Syndromes: Screening, Diagnosis, Monitoring. What have we learned?”
Jack Schjelderup – Haukeland University Hospital, Norway
“Treatment experience in two adults with creatine transporter deficiency”
Judith Miller – Children’s Hospital of Philadelphia & University of Pennsylvania
“Vigilan Observational Study of CTD – Study Progress and Updates”
Melanie Brandabur – Ultragenyx Pharmaceutical Inc.
“Creatine Transporter Deficiency Caregiver Perspectives and the Path to Diagnosis”