Research Posters

This page features CCDS research posters presented at various conferences.

If you presented a poster on a Cerebral Creatine Deficiency Syndrome and would like it listed here, email us at research@creatineinfo.org with the poster file attached and the author name(s), conference it was presented at, month and year presented, and any additional details or questions.

Creatine Deficiency Research Posters

2026 Poster thumbnails (1)
Audrey Thurm: “CTD & GAMT Outcome Measurement Tools in Pediatric Clinical Trials”
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2026 Poster thumbnails
Emily Reinhardt: “Elevating patient and caregiver voices: How CCDS families are taking a patient-centered approach to prepare for clinical trials”
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2026 Poster thumbnails (1)
Filippo Ingoglia: “Monocyte Derived Macrophages as an Alternative Cell Model for the Functional Diagnosis of Creatine Transporter Deficiency”
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2026 Poster thumbnails
Jenny Goldstein: “Annual update on the NIH-funded ClinGen Cerebral Creatine Deficiency Syndrome Variant Curation Expert Panel”
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2026 Poster thumbnails (4)
Katie Pulsipher: “Current Landscape of Enzyme Replacement Therapy and Considerations for GAMT Deficiency”
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2026 Poster thumbnails (3)
Tesla Peretti: “Route of administration investigation of a novel AAV9GATM construct in a AGAT deficiency murine model”
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2026 Poster thumbnails (2)
Sylvia Stockler: “Development of a Creatine Uptake Assay to Evaluate Repurposable Drugs in SLC6A8-Deficient Fibroblasts”
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2026 Poster thumbnails (1)
Alex Edwin: “A Simple Fluorometric Assay for Distinguishing Creatine from Creatine Prodrugs”
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Rhonwyn Waterson: “A drug repurposing pipeline to find treatments for SLC6A8/CRT-1 (creatine transporter) deficiency”
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Amanda Thomas-Wilson, PhD, FACMG: “An ongoing collaboration: The Association for Creatine Deficiencies and the Clinical Genome resource work together to facilitate variant classification”
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Andreas Schulze: “Improved outcomes in early treated GAMT deficiency – a sibling study”
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2024CustomRegPoster
Emily Reinhardt: “Lifecycle and promotion of a custom patient registry survey with an industry partner”
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2024-cardio-poster-ACD-symposium
Emily Reinhardt: “Evaluating cardiovascular health among CCDS patients enrolled in the CreatineInfo Patient Registry”
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2024-COS-Poster-ACD-Symposium
Zahra Nasseri Moghaddam: “Establishing a Core Outcome Set (COS) for CTD & GAMT deficiency through caregiver and health professional collaboration”
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SLEON-poster-ACD-2024
Sebastian Leon: “Novel creatine-loaded nanoparticles: A potential therapeutic avenue for creatine transporter deficiency”
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Alex Lee: “Ribosome-stalling reporters suggest the N-terminus of AGAT acting as a creatine-dependent translation-arrest peptide”
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Alex Lee: “Effect of creatine supplementation on AGAT expression and metabolic intermediates in GAMT-deficient mice”
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A poster titled Development of a Functional Assay to Diagnose Creatine Transporter Deficiency using UPLC-MSMS system
Filippo Ingoglia, PhD: “Functional studies in creatine transporter deficiency”
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A poster titled Cerebral Creatine Deficiency Syndromes (CCDS) Externally-Led Patient Focused Drug Development (EL-PFDD) Meeting Voice of the Patient Report.
Celeste Graham: “Cerebral Creatine Deficiency Syndromes (CCDS) Externally Led Patient Focused Drug Development (EL-PFDD) Meeting Voice of the Patient Report”
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Jacklyn M. Gallagher: “Towards the discovery of small molecules that restore the expression and function of CTD variants”
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Aurore Curie, PhD, MD: “CREAT_criteria Study: What have we learned regarding the cardiac phenotype of patients with creatine transporter deficiency (SLC6A8)?”
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A research poster titled
Alex Edwin: “Small molecule therapeutic approach for creatine transporter deficiency: creatine prodrug delivery targeting fatty acid amide hydrolase”
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research poster titled
Aleksander Bogoniewski: “Unraveling SLC6A8 creatine deficiency: Insights into Neurodevelopment through Organoid Research”
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