2023 CCDS Virtual Conference | Day 2 | August 26

2023 CCDS Virtual Conference - Association for Creatine Deficiencies
Clickable timestamps below...
Session 5: Insights from CCDS Models - SLC6A8
ASSOCIATION FOR CREATINE DEFICIENCIES
Opening Remarks 0:00
ALOISE MABONDZO, PHD, PARIS SACLAY UNIVERSITY, CEA, NEUROVASCULAR UNIT RESEARCH AND THERAPEUTIC INNOVATION LABORATORY
“Deciphering the Neuropathophysiology Mechanism in Cerebral Organoids from Creatine Transporter Deficiency Patient iPSCs” 0:14:25
LUDOVICA IOVINO, PHD, NEUROSCIENCE INSTITUTE, CNR PISA; IRCCS STELLA MARIS FOUNDATION, PISA
“Gene replacement therapy for the cure of Creatine Transporter Deficiency Syndrome” 0:32:23
LAURA BARONCELLI, PHD, NEUROSCIENCE INSTITUTE, CNR PISA; IRCCS STELLA MARIS FOUNDATION, PISA
“Optical imaging as a prognostic tool for monitoring brain function in Creatine Transporter Deficiency Syndrome” 0:49:08
Q&A 01:06:21
Session 6: Insights from CCDS Models - GAMT
ROMAIN BERNASCONI, LABORATORY OF SYSTEMS BIOLOGY, DEPARTMENT OF CYBERNETICS, TALLINN UNIVERSITY OF TECHNOLOGY, ESTONIA
“Creatine-deficiency in AGAT KO but not GAMT KO causes a muscle-specific shift in the myosin heavy chain composition” 01:18:00
GERALD LIPSHUTZ, MD, MS, UCLA SCHOOL OF MEDICINE
“Toxic Effects of Guanidinoacetic Acid (GAA): Implications for Brain Pathology in GAMT Deficiency” Recording not available
ROBYN BINSFIELD, QUEEN’S UNIVERSITY, CENTRE FOR NEUROSCIENCE STUDIES
“Expression and function of guanidinoacetate methyltransferase (GAMT) is restored in cellular and murine models of GAMT creatine deficiency following treatment with scAAV9.hGAMT” Recording not available
Q&A 01:33:18
Session 7: Therapeutic Development - Gene Therapy
OLIVIER BRAISSANT, PHD, SERVICE OF CLINICAL CHEMISTRY, LAUSANNE UNIVERSITY HOSPITAL, SWITZERLAND
“Rescue of myocytes and locomotor activity through intracisternal AAV9 gene therapy in a rat model of creatine transporter deficiency” 01:47:05
TROY WEBSTER, QUEENS UNIVERSITY
“ICV Delivery of SLC6A8 by scAAV9 Rescues Biochemical and Behavioral Phenotypes in a Mouse Model of SLC6A8 Deficiency” 01:59:42
STEVE BAKER, MD, PHD, UNIVERSITY OF UTAH
“Partnering with ACD to Form a Creatine Deficiency Research Center for Gene Therapy” 02:12:03
Q&A 02:27:55
AUDIENCE POLL: CTD Gene Therapy Caregiver Interest 02:46:25
Session 8: Clinical Updates - Part 2
MAURIZIO BALESTRINO, MD, PHD, DEPARTMENT OF NEUROSCIENCES (DINOGMI), UNIVERSITY OF GENOA AND IRCCS POLICLINIC HOSPITAL, GENOA, ITALY
“Selective alteration of the left arcuate fasciculus in creatine transporter deficiency” 02:47:10
SAADET ANDREWS, PHD, DEPARTMENT OF MEDICAL GENETICS, UNIVERSITY OF ALBERTA
“Autosomal dominant Fanconi syndrome due to a heterozygous pathogenic variant in GATM and review of the literature” 03:01:00
HEIDI WALLIS, EXECUTIVE DIRECTOR, ACD
“PaReNts Project: Learnings from the CCDS Expert Panel development” & AUDIENCE POLL: "Diagnosing Clinician's Prior Experience with CCDS 03:14:19
Q&A 03:32:00
Closing Session & Panel
THOMAS JOUDINAUD, CERES BRAIN THERAPEUTICS
“Advancements Towards Clinical Trials of CBT101” & AUDIENCE POLL: GAMT Gene Therapy Caregiver Interest 03:50:57
SEBASTIAN LEON, UNIVERSITY OF CENTRAL FLORIDA
“Advancing Therapeutic Strategies for Creatine Deficiency Syndromes: Novel Creatine-Loaded Nanoparticles for Targeted Cell Delivery” 04:06:16
Q&A 04:22:18
INTERACTIVE PANEL: Sylvia Stockler, Gerry Lipshutz, Laura Baroncelli, & Jagdeep Walia
“Therapeutic developments for CCDS” 04:42:53
SANGEETHA IYER, RESEARCH ADVISOR, ACD
Closing Remarks 05:29:42
Program Agenda, Speaker Bios, & Abstracts: creatineinfo.org/ccds-virtual...
For more information about ACD visit: creatineinfo.org
#Creatinedeficiencies #CCDS #Creatineinfo