On 18 June 2026, the Citrin Foundation hosted an online global patient gathering for individuals and families affected by citrin deficiency. With more than 50 participants joining from around the world, the event provided an opportunity to learn from an expert, hear lived experiences, and connect as a global community.

We were delighted to welcome an inspiring line-up of guest speakers. The programme included clinical updates, patient experience insights, advocacy perspectives, and personal stories from those living with a rare disease/citrin deficiency.

Programme

Updates on the understanding and management of citrin deficiency

Dr Julien Baruteau – Great Ormond Street Institute of Child Health, University College London, London, UK

Dr Julien Baruteau shared an overview of the latest scientific and clinical understanding of citrin deficiency. His presentation covered what citrin deficiency is, how it affects patients, and current approaches to management.

He discussed existing management strategies, including the use of medium-chain triglycerides (MCT) and the importance of avoiding alcohol. He also highlighted potential future therapeutic approaches, including nicotinamide riboside/NAD+, messenger RNA replacement, and gene editing technologies.

Dr Baruteau ended his talk with a positive message, emphasising that with the continued support of the Foundation and the citrin deficiency patient community, the wider research, clinical, and patient ecosystem will continue to develop.

Results from the In-Depth Survey of Citrin Deficiency Patients

Barbara Yu – Citrin Foundation

Barbara Yu presented findings from the Foundation’s recently published paper, “Patient experience informing outcomes and research in rare disease: Citrin deficiency as a case study”.

Her presentation highlighted the importance of patient-reported experience and explained how patient participation can help improve understanding of citrin deficiency, inform research priorities, and support the development of better management and treatment approaches.

The session also included interactive questions for participants, including reflections on what may motivate or prevent patients from taking part in clinical trials.

Living with a rare disease and the journey to becoming an advocate

Emily Muller – Research Analyst and Accessibility Advocate

Emily Muller shared her personal journey of living with a rare and undiagnosed disease and becoming a patient advocate. She spoke about her involvement in advocacy efforts, including her contribution to the passing of the 21st Century Cures Act in the United States.

Emily delivered a powerful message about the importance of scientific literacy and patient involvement in research. She emphasised that patients today have more opportunities than ever to help shape clinical trial endpoints and define what meaningful outcomes look like to them.

She also reminded families that, in rare diseases, they may often meet highly trained clinicians who have never encountered their child’s condition before. Her message to the community was clear: patients and families are not only there to receive information, but also to educate clinicians about their own expertise and lived experience.

Being diagnosed as an adult and the journey to diagnosis

S. Joe Downing – Citrin Foundation Patient Committee member

Joe Downing shared his personal experience of being diagnosed with citrin deficiency as an adult. He spoke about how, until only a few years ago, he did not know he had the condition, and how his wife played an important role in making links between his diagnosis and long-standing symptoms and food preferences.

Growing up, rice was a central part of many meals, yet Joe never liked eating it. He also disliked alcohol and other carbohydrate-rich foods such as bread. For many years, he thought he was simply a picky eater. Receiving a diagnosis finally gave him an explanation for his food preferences, and many things began to make sense.

Joe ended with an empowering message for those who may be newly diagnosed or still searching for answers:

“You are not imagining it. There is a reason your body has been communicating with you this whole time, even when no one gave you a manual for it. So just keep listening to your body”.

Thank You!

We would like to sincerely thank all our speakers for sharing their valuable knowledge, experience, and personal stories with the citrin deficiency community.

We are also deeply grateful to all participants who joined the gathering from across the world, including those who attended very early in the morning or late at night due to time zone differences.

We hope to host another patient gathering in the future and look forward to welcoming many more members of the global citrin deficiency community.