Session 1: Clinical Updates – Part 1

9:30 AM – 10:45 AM Pacific Daylight Savings Time (PDT)

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”

Seth Berger, PhD, MD, Children’s National Hospital

“Evidence for Cardiac Arrhythmia Risk in Creatine Transport Disorder”

Samar Rahhal, MD, NICHD

“Elevated amyloid beta particles and total tau in cerebral spinal fluid in individuals with Creatine Transporter Deficiency”

Q&A and Break

Session 2: Therapeutic Development – Small Molecules

10:45 AM – 12:00 PM Pacific Daylight Savings Time (PDT)

Evandro Ferrada, PhD, CeMM – Center for Molecular Medicine of the Austrian Academy of Sciences

“Experimental and computational interpretation of the creatine transporter variome”

Jacklyn Gallagher, Purdue University

“Towards the Discovery of Small Molecules that Restore the Expression and Function of CTD Variants”

Nicola Longo, PhD, MD, University of Utah

“Inhibitors of arginine glycine aminidinotransferase as a therapy for GAMT deficiency”

Peter Axerio-Cilies, PhD, University of British Columbia, Indiana University

“Restoring Function to Defective SLC6A8 Creatine Transporter Variants using Small Molecules”

Q&A

Session 3: Human Genetics

12:00 PM – 1:15 PM Pacific Daylight Savings Time (PDT)

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.”

Filippo Ingoglia, PhD, University of Utah / ARUP Laboratories

“Functional studies in creatine transporter deficiency”

Samantha Baxter, Genetic Counselor, Broad Institute of MIT and Harvard

“Understanding CCDS Prevalence”

Q&A and Break

Session 4: Core Outcomes

1:15 PM – 2:30 PM Pacific Daylight Savings Time (PDT)

Sylvia Stockler, PhD, MD, BC Children’s Hospital

“Delphi Survey- A collaboration between Parents and Physicians through the PaRents Project”

Emily Reinhardt, Patient Registry Coordinator, ACD

“CreatineInfo Patient Registry Update”

Audrey Thurm, PhD, National Institute of Mental Health

“Clinical Trial Neurodevelopmental Outcome Measurement: Lessons Learned”

Q&A

ACD Closing Remarks – Day 1

Session 6: Insights from CCDS Models – GAMT

9:15 AM – 10:30 AM Pacific Daylight Savings Time (PDT)

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”

Gerald Lipshutz, MD, MS, UCLA School of Medicine

“Toxic Effects of Guanidinoacetic Acid (GAA): Implications for Brain Pathology in GAMT Deficiency”

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”

Q&A and Break

Session 7: Therapeutic Development – Gene Therapy

10:30 AM – 11:30 AM Pacific Daylight Savings Time (PDT)

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”

Troy Webster, Queens University

“ICV Delivery of SLC6A8 by scAAV9 Rescues Biochemical and Behavioral Phenotypes in a Mouse Model of SLC6A8 Deficiency”

Steve Baker, MD, PhD, University of Utah

“Partnering with ACD to Form a Creatine Deficiency Research Center for Gene Therapy”

Q&A

Session 8: Clinical Updates – Part 2

11:30 AM – 12:45 PM Pacific Daylight Savings Time (PDT)

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””

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”

Heidi Wallis, Executive Director, ACD

“PaReNts Project: Learnings from the CCDS Expert Panel development”

Q&A and Break

Closing Session & Panel

12:45 PM – 2:30 PM Pacific Daylight Savings Time (PDT)

Ceres BRAIN Therapeutics

“Advancements Towards Clinical Trials of CBT101”

Sebastian Leon

“Advancing Therapeutic Strategies for Creatine Deficiency Syndromes: Novel Creatine-Loaded Nanoparticles for Targeted Cell Delivery”

INTERACTIVE PANEL

“Therapeutic developments for CCDS”

ACD Closing Remarks – Day 2