From 22–24 April 2026, the Citrin Foundation was pleased to attend The 3rd International Conference on Ureagenesis Defects and Allied Conditions 2026, held at The Telethon Institute of Genetics and Medicine (TIGEM) in Pozzuoli, Italy.

The three-day conference brought together researchers, clinicians, and professionals from several countries to discuss recent advances in ureagenesis defects and allied conditions. The meeting provided an important opportunity for scientific exchange, collaboration, and connection across the field, with presentations and discussions spanning clinical research, disease mechanisms, therapeutic developments, and patient-centred perspectives.

The Citrin Foundation was grateful for the opportunity to contribute to the programme through three presentations, each highlighting a different aspect of our work to advance understanding, research, and patient engagement in citrin deficiency.

Insights from Lived Experience of Citrin Deficiency Patients

Explored whether patient experience could help to illuminate the functional and psychological consequences of underlying metabolic disruption. Presented findings from a patient-organisation-led qualitative survey of seven adults with CD, alongside other complementary data. Systematically eliciting patient experience can inform both research priorities and the development of fit-for-purpose patient-reported outcome measures (PROMs) grounded in disease biology.

Barbara Yu, Co-Founder and President

An Ecosystem Approach to Citrin Deficiency: Progress, Lessons Learned, and Remaining Gaps

Lessons learned to date, including the importance of proactively linking basic biology to preclinical validation to human studies, strategic selection and development of therapeutic approaches, sustained investment in infrastructure and clinical trial readiness, embedding patient-centred data and feedback into research prioritisation, and designing effective pathways to deliver treatments to patients.

Su Kit Chew, Senior Director of Translational Research and Partnerships

Beyond Advocacy: Co-Creating Citrin Deficiency Research with the Patient Community

Introduced a co-creation model to connect patients, clinicians, and academics around shared scientific goals. By organising and empowering a rare disease community, patient-led organisations can generate the infrastructure, data, and partnerships that enable the science. Presented this work to highlight what patient-led organisations can facilitate as co-creators in rare disease research.

Yurika Asami, Senior Patient Engagement and Research Program Officer

Several presentations reflected research projects supported by the Citrin Foundation, highlighting progress across newborn screening, clinical trial readiness, natural history, disease modelling, and therapeutic research.

These included:

1) Development of a Dried Blood Spot–Based Quantitative Real-Time PCR Newborn Screening System for Citrin Deficiency, 2) The Status of Adult Patients with Citrin Deficiency in Japan: A Report from the Nationwide Study

Jun Kido, Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan

Overcoming Barriers to Clinical Trials in Urea Cycle Disorders: Regulatory, Scientific, and Financial Perspectives

Roman Iwasaki, University of Zurich – Children’s Hospital, Switzerland

Clinical Trial Readiness in Citrin Deficiency – Parallels to Urea Cycle Disorders

Pei Jin Lim, Urea Cycle Disorders Translational Center – Universität Zürich – Citrin Foundation, Zurich, Switzerland

The Challenge of Modelling Citrin Deficiency: A Hepatic Model Succeeds Where Fibroblasts Fail

Toni Vukovic, Division of Metabolism and Children’s Research Center, University Children’s Hospital Zürich, Switzerland

Elucidating Citrin Deficiency through iPSC-Derived Hepatocyte-like Organoids and Rescue Strategies

Giuseppe Fiermonte, Department of Biosciences, Biotechnology and Environment, University of Bari, Bari, Italy

Aralar Liver-Specific Knockout and Citrin Knockout Mouse: A New Citrin Deficiency Model with No Aspartate-Glutamate Carriers in Liver Mitochondria

Laura Contreras, Departamento de Biología Molecular, Universidad Autónoma de Madrid, Madrid, Spain

Improving CD Mouse Models: Generation of a Triple Citrin, GPD2 and Liver-Specific Aralar-Knockout Mouse

Ismael García-Lobo, Departamento de Biología Molecular, Universidad Autónoma de Madrid, Madrid, Spain

Beyond the projects supported by the Foundation, it was also great to see independent citrin deficiency-related work presented by Burcu Öztürk Hişmi, Marmara University School of Medicine, Department of Pediatrics, Division of Pediatric Metabolic Diseases, Istanbul, Türkiye, with the talk “Reality-Driven Lessons from Citrin Deficiency: Two Adult Patients and the Risk of Rarity-Driven Misinterpretation”.

Together, these presentations reflect the growing international attention being given to citrin deficiency, and the importance of continued collaboration across countries, disciplines, and patient communities.

We are deeply grateful to the organisers, Nicola Brunetti Pierri and Leandro R. Soria, for hosting such an impactful and engaging conference. It was a valuable opportunity to take part in meaningful scientific discussions, foster new connections, and spend time with colleagues and friends across the field.

We look forward to continuing these conversations and building on the collaborations and insights shared during the conference.