Preliminary scientific programme
PKUCon 2027 will begin with a dedicated Young Contributors session, creating a visible and meaningful space for young contributors and promoting originality, clinical curiosity, translational thinking and treatment optimisation.
The second day will move from basic mechanisms and Phe handling to the differential diagnosis of hyperphenylalaninaemias, integrated nutritional care, and brain, behavioural and real-life outcomes beyond blood Phe.
The last day, we will focus on therapeutic personalisation, including oral pharmacological options, enzyme substitution and real-world decision-making, before looking ahead to the expanding therapeutic landscape and closing with a discussion on how precision metabolic medicine should reshape PKU care.
Confirmed speakers are displayed in the programme below. Additional faculty will be announced in due course.
Thursday, 18 March 2027 – Day 1: Young Contributors session
| Time | Programme item | Speaker |
|---|---|---|
| 14:00–15:00 | Registration, poster set-up and welcome coffee | |
| 15:00–16:00 | Young Contributors poster tour | |
| 16:00–16:15 | Welcome and opening remarks | |
| 16:15–18:00 | Best abstracts: Oral presentations | |
| 16:15–16:30 | Selected oral presentation 1 | |
| 16:30–16:45 | Selected oral presentation 2 | |
| 16:45–17:00 | Selected oral presentation 3 | |
| 17:00–17:15 | Selected oral presentation 4 | |
| 17:15–17:30 | Selected oral presentation 5 | |
| 17:30–17:45 | Selected oral presentation 6 | |
| 17:45–18:00 | Discussion | Moderated by Presidents |
| 18:00–18:05 | Audience voting for best presentation | Moderated by Presidents |
| 18:05–18:20 | Lifetime Achievement Award ceremony | |
| 18:20–18:30 | Wrap-up and announcement of Saturday Rising Minds Award ceremony | |
| 18:30–19:30 | Welcome drink |
Friday, 19 March 2027 – Day 2
| Time | Programme item | Speaker |
|---|---|---|
| 07:30–08:30 | Registration, exhibition and welcome coffee | |
| 08:30–08:45 | Welcome | |
| 08:45–10:15 | Beyond Phe: From basic mechanisms to precision metabolic care | |
| 08:45–09:15 | Amino acid transport and inter-organ metabolism in PKU: Understanding Phe within the broader picture | Martina Chiu |
| 09:15–09:35 | PAH structure and function: From enzyme biology to residual activity | Aurora Martinez |
| 09:35–09:55 | Mutational spectrum in PKU: What genotype explains – and what it does not | Carsten Bergmann |
| 09:55–10:15 | Panel discussion and audience Q&A: From mechanisms to clinical interpretation: How should basic science inform PKU care? | Moderated by Alvaro Hermida-Ameijeiras |
| 10:15–11:00 | Coffee break and exhibition | |
| 11:00–12:30 | Beyond PAH: The other hyperphenylalaninaemias | |
| 11:00–11:30 | Other hyperphenylalaninaemias: From biochemical detection to neurometabolic diagnosis | |
| 11:30–11:50 | Biopterin disorders and neurotransmitter metabolism: What the neurologist needs to recognise | Maria Gizewska |
| 11:50–12:10 | DNAJC12 deficiency and emerging causes of hyperphenylalaninaemia: Lessons for differential diagnosis | Alberto Burlina |
| 12:10–12:30 | Panel discussion and audience Q&A: When should we think beyond classical PKU? | Moderated by Aurora Martinez, Francjan van Spronsen |
| 12:30–13:45 | Lunch and exhibition | |
| 12:45–13:15 | Industry session – Meet the expert | |
| 13:45–15:15 | Beyond diet: Nutrition as part of integrated precision care in PKU | |
| 13:45–14:15 | Nutrition beyond Phe restriction: Dietary quality, macro- and micronutrients in PKU | Anita MacDonald |
| 14:15–14:35 | Dietary components not usually discussed in PKU: What matters for long-term health? | Alvaro Hermida-Ameijeiras |
| 14:35–14:55 | Long-term medical outcomes in PKU: Bone health, metabolic risk and real-world evidence | Julio C. Rocha |
| 14:55–15:15 | Panel discussion and audience Q&A: What should we monitor beyond Phe and protein tolerance? | Moderated by Raphaela Muri |
| 15:15–16:00 | Coffee break and exhibition | |
| 16:00–17:30 | Beyond numbers: Brain, behaviour and long-term neuropsychiatric outcomes in PKU | |
| 16:00–16:30 | Brain vulnerability in PKU: What do we know beyond blood Phe? | Raphaela Muri |
| 16:30–16:50 | Neurocognitive trajectories across the lifespan: Childhood, adolescence and adulthood | |
| 16:50–17:10 | Behaviour, psychiatric symptoms and real-life functioning in PKU | Frederiec K. Withaar |
| 17:10–17:30 | Panel discussion and audience Q&A: When metabolic control is not enough: What outcomes should we measure and treat? | Moderated by Alberto Burlina, Maria Gizewska |
| 17:45–18:15 | Industry session – Meet the expert | PTC Therapeutics |
Saturday, 20 March 2027 – Day 3
| Time | Programme item | Speaker |
|---|---|---|
| 08:15–09:00 | Morning coffee and exhibition | |
| 09:00–11:00 | Beyond single treatment: Therapeutic personalisation in PKU | |
| 09:00–09:30 | From one-size-fits-all to dynamic therapeutic personalisation in PKU | Ania C. Muntau |
| 09:30–09:50 | Oral pharmacological options and responsiveness: From biochemical response to clinical impact | François Feillet |
| 09:50–10:10 | Enzyme substitution therapy in real-world PKU care: Efficacy, safety and treatment burden | |
| 10:10–10:30 | Combining, sequencing and adapting interventions across the patient journey | Amaya Bélanger-Quintana |
| 10:30–11:00 | Interactive round table: Which option, for which patient, at which time? | Moderated by Cary O. Harding, Nicola Longo |
| 11:00–11:45 | Coffee break and exhibition | |
| 11:45–13:15 | Beyond current care: Reshaping PKU treatment through an expanding therapeutic pipeline | |
| 11:45–12:15 | The expanding therapeutic pipeline in PKU: From unmet needs to precision metabolic medicine | Francjan van Spronsen |
| 12:15–12:35 | Gene therapy, gene correction and liver-directed strategies for PKU | Cary O. Harding |
| 12:35–12:55 | Beyond current drugs: Amino-acid transport, proteostasis and emerging disease-modifying targets in PKU | |
| 12:55–13:15 | Panel discussion and audience Q&A: What could truly reshape PKU care in the next decade? | Moderated by Anita MacDonald, François Feillet |
| 13:15–14:30 | Lunch and exhibition | |
| 13:30–14:00 | Industry session – Meet the expert | |
| 14:30–15:45 | Session 7 – TBC | |
| 15:45–16:30 | Closing round table – From beyond Phe to precision metabolic medicine: What should change in PKU care? | |
| 16:30–16:40 | PKUCon Rising Minds Award ceremony | |
| 16:40–16:45 | Meeting closure |
Please note: this is a preliminary programme. Session titles, timings, speakers and formats may be adjusted as the scientific programme is further developed. Additional faculty members will be announced in due course.