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” <Video Link>

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

“Evidence for Cardiac Arrhythmia Risk in Creatine Transport Disorder” <Video Link>

Samar Rahhal, MD, NICHD

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

Session 1 Q&A <Video Link>

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” <Video Unavailable>

Jacklyn Gallagher, Purdue University

“Towards the Discovery of Small Molecules that Restore the Expression and Function of CTD Variants” <Video Link>

Nicola Longo, PhD, MD, University of Utah

“Inhibitors of arginine glycine aminidinotransferase as a therapy for GAMT deficiency” <Video Link>

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

“Restoring Function to Defective SLC6A8 Creatine Transporter Variants using Small Molecules” <Video Link>

Session 2 Q&A <Video Link>

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.” <Video Link>

Filippo Ingoglia, PhD, University of Utah / ARUP Laboratories

“Functional studies in creatine transporter deficiency” <Video Link>

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

“Understanding CCDS Prevalence” <Video Link>

Session 3 Q&A <Video Link>

Audience Poll: Patient Registry <Video Link>

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” <Video Link>

Emily Reinhardt, Patient Registry Coordinator, ACD

“CreatineInfo Patient Registry Update” <Video Link>

Audrey Thurm, PhD, National Institute of Mental Health

“Clinical Trial Neurodevelopmental Outcome Measurement: Lessons Learned” <Video Link>

Session 4 Q&A <Video Link>

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” <Video Link>

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 <Video Link>

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” <Video Link>

Troy Webster, Queens University

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

Steve Baker, MD, PhD, University of Utah

“Partnering with ACD to Form a Creatine Deficiency Research Center for Gene Therapy” <Video Link>

Q&A <Video Link>

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” <Video Link>

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” <Video Link>

Heidi Wallis, Executive Director, ACD

“PaReNts Project: Learnings from the CCDS Expert Panel development” <Video Link>

Q&A <Video Link>

Closing Session & Panel

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

THOMAS JOUDINAUD, Ceres BRAIN Therapeutics

“Advancements Towards Clinical Trials of CBT101” <Video Link>

Sebastian Leon, University of Central Florida

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

Q&A <Video Link>

INTERACTIVE PANEL: Sylvia Stockler, Gerry Lipshutz, Laura Baroncelli, & Jagdeep Walia

“Therapeutic developments for CCDS” <Video Link>

sangeetha iyer, research advisor, ACD

Closing Remarks <Video Link>