Poster Session
We wish to thank everyone who submitted abstracts!
After careful consideration, we have decided to showcase the following posters at the symposium:
| Abstract Title | Presenter | Institution |
| Urea cycle disorders at a tertiary pediatric center in Vietnam over 20 years: spectrum, phenotype, genotype, and outcomes | Nguyen Ha | Vietnam National Children's Hospital |
| Hyperammonemia in a child with short bowel syndrome: urea cycle disorder or complication of altered gastrointestinal function | Rachel VanCoillie | University Hospitals |
| Evaluation of pyrimidine pathway metabolites as novel biomarkers for ornithine transcarbamylase deficiency | Yuta Sudo | Fujita Health University School of Medicine |
| The potential of CRISPR base editing for a one-fits-manygene editing therapy | Sven Klassa | University Children’s Hospital Zurich |
| In vitro approach to citrin deficiency: cellular modeling for characterization and therapeutic screening | Toni Vukovic | University Children's Hospital Zurich |
| Efficacy of arginine and citrulline for ammonia clearance in urea cycle disorders | Nathan Breulliard | University Children's Hospital Zurich |
| Plasma glutamine and ammonia dynamics as predictors of hyperammonemic crisis in urea cycle disorders: a retrospective study stratified by onset type | Yasuaki Yasuda | Fujita Health University |
| A novel deep intronic cps1 variant causing pseudo-exon insertion: diagnostic challenges in urea cycle disorders | Miki Honto | The Jikei University School of Medicine |
| Pregnancy-related risks and complications in women with citrin deficiency: low risk of perinatal hyperammonemia and caution with OGTT | Hikaru Nishida | The Jikei University School of Medicine |
| Effect of ammonia on intracellular energetic status | Makoto Yoshino | Kurume University |
| Modification of the variant classification rules for ornithine transcarbamylase through pilot curation | Kara Simpson | Children's National Hospital |
| RARE fNIRs: A novel approach to identifying brain biomarkers in rare genetic disorders | Andrea Gropman | St. Jude Children's Research Hospital |
| A unique approach to solving a unique UCD - citrin deficiency | Li Eon Kueuk | Citrin Foundation |
| Understanding the lived experiences of adult patients with citrin deficiency: results from an in-depth survey | Yurika Asami | Citrin Foundation |
| NUCDF to build network, create roadmap for future research in urea cycle disorders | Tresa Warner | National Urea Cycle Disorders Foundation |
| MyRareDiet™: A diet tracking tool for patients with inborn errors of metabolism | Melanie Gillingham | National Urea Cycle Disorders Foundation |
| NUCDF launches virtual education program for frontline clinicians | Jill Williams | National Urea Cycle Disorders Foundation |
Industry | ||
| Interim results following multiple doses of ARCT-810 mRNA in phase 2 trials for ornithine transcarbamylase deficiency | Benjamin Greener | Arcturus Therapeutics |
| Initial clinical results from OTC-HOPE, the RST in vivo, liver directed, AAV-mediated gene insertion study in neonatal OTC deficiency; complete clinical response observed in RST male infant to receive ECUR-506: 9-month data | George Diaz | IECURE |
| A phase 1 and 1b study in healthy subjects and OTC heterozygotes with CMPCPS-001-an investigational antisense oligonucleotide for the treatment of urea cycle disorders (UCDs) | Yuri Maricich | CAMP4 Therapeutics |