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

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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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Emily Reinhardt: “Evaluating cardiovascular health among CCDS patients enrolled in the CreatineInfo Patient Registry”
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Zahra Nasseri Moghaddam: “Establishing a Core Outcome Set (COS) for CTD & GAMT deficiency through caregiver and health professional collaboration”
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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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Aleksander Bogoniewski: “Unraveling SLC6A8 creatine deficiency: Insights into Neurodevelopment through Organoid Research”
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