2023 CCDS Virtual Conference | Day 1 | August 25

2023 CCDS Virtual Conference - Association for Creatine Deficiencies
Clickable timestamps below...
Welcome & Opening Session:
ASSOCIATION FOR CREATINE DEFICIENCIES
Opening Remarks 0:00:00
JULIA VITARELLO, MILA’S MIRACLE FOUNDATION
“Special Interest Session: Mila’s Story” 0:23:05
Session 1: Clinical Updates - Part 1
JUDI MILLER, PHD, MS, CENTER FOR AUTISM RESEARCH, THE CHILDREN’S HOSPITAL OF PHILADELPHIA
“Clinical Characteristics of Creatine Transporter Deficiency (CTD): Final Results of the Vigilan Observational Study” 01:25:25
SETH BERGER, PHD, MD, CHILDREN’S NATIONAL HOSPITAL
“Evidence for Cardiac Arrhythmia Risk in Creatine Transport Disorder” 01:52:30
SAMAR RAHHAL, MD, NICHD
“Elevated amyloid beta particles and total tau in cerebral spinal fluid in individuals with Creatine Transporter Deficiency” 02:13:56
Q&A 02:26:17
Session 2: Therapeutic Development - Small Molecules
JACKLYN GALLAGHER, PURDUE UNIVERSITY
“Towards the Discovery of Small Molecules that Restore the Expression and Function of CTD Variants” 02:41:30
NICOLA LONGO, PHD, MD, UNIVERSITY OF UTAH
“Inhibitors of arginine glycine aminidinotransferase as a therapy for GAMT deficiency” 02:59:06
PETER AXERIO-CILIES, PHD, UNIVERSITY OF BRITISH COLUMBIA, INDIANA UNIVERSITY
“Restoring Function to Defective SLC6A8 Creatine Transporter Variants using Small Molecules” 03:12:20
Q&A 03:29:24
Session 3: Human Genetics
JENNY GOLDSTEIN, PHD, UNIVERSITY OF NORTH CAROLINA AT CHAPEL HILL
“The ClinGen Variant Curation Expert Panel for Cerebral Creatine Deficiency Disorders: Classifying the clinical significance of variants in GATM, GAMT, and SLC6A8” 03:45:15
FILIPPO INGOGLIA, PHD, UNIVERSITY OF UTAH / ARUP LABORATORIES
“Functional studies in creatine transporter deficiency” 04:02:36
SAMANTHA BAXTER, GENETIC COUNSELOR, BROAD INSTITUTE OF MIT AND HARVARD
“Understanding CCDS Prevalence” 04:16:50
Q&A 04:34:07
AUDIENCE POLL: Patient Registry 04:50:26
Session 4: Core Outcomes
SYLVIA STOCKLER, PHD, MD, BC CHILDREN’S HOSPITAL
“Delphi Survey- A collaboration between Parents and Physicians through the PaRents Project” 04:51:56
EMILY REINHARDT, PATIENT REGISTRY COORDINATOR, ACD
“CreatineInfo Patient Registry Update” 05:15:49
AUDREY THURM, PHD, NATIONAL INSTITUTE OF MENTAL HEALTH
“Clinical Trial Neurodevelopmental Outcome Measurement: Lessons Learned” 05:30:58
Q&A 05:44:00
Program Agenda, Speaker Bios, & Abstracts: creatineinfo.org/ccds-virtual...
For more information about ACD visit: creatineinfo.org
#Creatinedeficiencies #CCDS #Creatineinfo