Patient Journeys & clinical care pathways
Patient journeys and clinical care pathways provide complementary frameworks for understanding and organising care delivery. Patient journeys capture the sequence of events from presentation to follow-up, highlighting variations in practice, delays, and transitions across care settings. Clinical pathways define the recommended, evidence-based sequence of interventions for specific conditions, supporting consistency while accommodating patient-level variation.
These essential resources help identify gaps and enhance coordination across services, ultimately ensuring timely and high-quality care for patients.
Patient Journey PDH Deficiency
Our PM-MD subnetwork has collaboratively written a Patient Journey for Pyruvate dehydrogenase (PDH) deficiency together with the Freya Foundation.
PDH Deficiency is a rare neurodegenerative disorder associated with abnormal mitochondrial metabolism and characterised by a wide range of clinical signs with metabolic and neurological components.
The sections of this Patient Journey describe the recognition of the first symptoms, the diagnostic phase, the treatment phase – including supportive management – the regular monitoring, and the transition to adulthood. An additional section is dedicated to the family and social needs.
The PDH Deficiency Patient Journey is currently available in English, Portuguese, Norwegian, Polish, Spanish, Swedish, Georgian and will soon be available in French, Dutch, Italian, German, and Estonian.
“The Classical Galactosemia European Care Pathway” is now available
MetabERN is pleased to inform you that “The Classical Galactosemia European Care Pathway” is now available. This initiative was spearheaded by Mrs Maaike van Kempen, Mrs Clementine Bry, Prof. Estela Rubio-Gozalbo, Prof. Eileen Treacy, and Prof. Annet Bosch in collaboration with JARDIN Joint Action. The pathway is built upon the International Clinical Guideline for the Management of Classical Galactosemia, which outlines diagnosis, treatment, and follow-up protocols. This guideline was developed by the Galactosemia Network (GalNet) and reviewed by the International Galactosemia Network and the European Galactosemia Society, in cooperation with the European Galactosemia Patient Society. The care pathway was presented and discussed at the annual GalNet EGS meeting in November 2025. Subsequently, it underwent further review by three additional patient representatives from various countries.
Explore “The Classical Galactosemia European Care Pathway“.
Visit our page dedicated to patient journeys and care pathways.
