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Patient pathways for rare diseases in Europe: ataxia as an example.

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Vallortigara, Julie 
Greenfield, Julie 
Hunt, Barry 
Hoffman, Deborah 
Reinhard, Carola 


BACKGROUND: Progressive ataxias are rare and complex neurological disorders that represent a challenge for the clinicians to diagnose and manage them. This study explored the patient pathways of individuals attending specialist ataxia centres (SAC) compared with non-specialist settings. We investigated specifically how diagnosis was reached, the access to healthcare services, treatments, and care satisfaction. The focus of this study was on early intervention, coordination of treatment to understand the care provision in different countries. METHODS: A patient survey was done in the UK, Germany and Italy to gather information about diagnosis and management of the ataxias in specialist (SAC) and non-specialist settings, utilisation of other primary and secondary health care services, and patients' satisfaction of received treatment. RESULTS: Patients gave positive feedback about the role of SAC in understanding their condition, ways to manage their ataxia (p < 0.001; UK) and delivering care adapted to their needs (p < 0.001; UK), in coordinating referrals to other healthcare specialists, and in offering opportunities to take part in research studies. Similar barriers for patients were identified in accessing the SACs among the selected countries, UK, Germany, and Italy. CONCLUSIONS: This study provides crucial information about the ataxia patients care pathways in three European countries. Overall, the results showed a trend in patients' satisfaction being better in SAC compared to non-SAC. The outcomes can be used now for policy recommendations on how to improve treatment and care for people with these very rare and complex neurological diseases across Europe.


Acknowledgements: Several authors are members of the ERN-RND—Project ID No 739510. Patients organisations Ataxia UK (UK); DHAG (Germany; Andreas Nadke), Ataxie Forderverein e.V. (Bart-Jan Schuman) and AISA (Italy; Maria Litani and Angela Ghezzi); ataxia specialist nurse Suzanne Booth (Ataxia centre, London, UK); clinicians Ludger Schoels, Alessandro Filla, Alex Munchau.

Funder: European Brain Council; doi:

Funder: Reata

Funder: Takeda Pharmaceuticals U.S.A.; doi:


Ataxia, Care pathway, Patient survey, Rare diseases, Specialist centre, Humans, Rare Diseases, Ataxia, Cerebellar Ataxia, Europe, Delivery of Health Care

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Orphanet J Rare Dis

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Springer Science and Business Media LLC
Medical Research Council (MR/N028767/1)