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EBC looks forward to presenting an ePoster on ‘The role of patient representatives in the optimization of Patient Care Pathways at European level: the PKU experience’ on 4 July 2023 at 13:13 – 13:16 at screen A2 in the Poster Area in the Exhibition Hall.


Cannizzo S, Quoidbach V, Treacy EP, Lange E, Sheehan-Gilroy B, Hagedorn T, Turchetti G 


In defining and optimising patient care pathways (PCPs) the role of patient representatives (PRs) is very important; it is crucial in the contest of rare diseases where the complexity of the disorders is higher, co-morbidity and multi-organ involvement are present, multidisciplinary care is needed, and patients may experience inequality in the access to specialised diagnostic/treatment procedures. In this work we have analysed the role of PRs in the design and optimization of Phenylketonuria’s (PKU) PCP.      


We applied RarERN PathÓ methodology to PKU PCP within the Value of Treatment (VOT) for Rare Brain Disorders project, coordinated by the European Brain Council. PRs of PKU Associations of Ireland and Germany were involved. The PCPs in place in centers of excellence (COE) were analysed, and patients provided input through a semi-structured questions survey exploring organization of care and perception of criticalities when receiving healthcare services. A first draft of the optimized PCP for PKU was discussed in a plenary meeting attended by neurologists and PRs. Finally, PRs were requested to provide additional suggestions through a second ad-hoc survey. 


PRs contributed to the design of an optimized PCP, providing unique information on the main organizational challenges in COEs and on the coordination of care between COE and non-hospital care at European level.  


To formally involve PRs in the co-design of the PCP is necessary because it allows to complement clinicians’ perspective about “ranking” and “weight” of what really matters throughout the PCP. PKU case is particularly interesting in this respect. 

Author details 

  1. Cannizzo Sara, Institute of Management, Scuola Superiore Sant’Anna, Pisa, Italy
  2. Quoidbach Vinciane, European brain Council, Brussels, Belgium
  3. Treacy Eileen P, National Centre for inherited Metabolic Disorders, Mater Misericordiae University Hospital, Dublin, Ireland
  4. Eric Lange, The European Society for Phenylketonuria and allied disorders
  5. 5. Sheehan-Gilroy Bernadette, PKU Association of Ireland and Munster Technological University Kerry Campus, Tralee, Ireland.
  6. 6. Hagedorn Tobias, German PKU and Allied Disorders Patients Association DIG PKU, European Society for Phenylketonuria & Allied Disorders
  7. 7. Turchetti Giuseppe, Institute of Management, Scuola Superiore Sant’Anna, Pisa, Italy

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