Background: Fabry disease (FD) is a rare X-linked lysosomal storage disorder with significant neurological involvement affecting the central, peripheral, and autonomic nervous systems. Despite its clinical burden, clear guidelines or clinical tools for the neurological assessment and monitoring of FD remain limited. Aim of the present work is to develop expert consensus recommendations on neurological management and outcome measures in FD, including the use of clinical scales, patient-reported outcome measures (PROMs), neuroimaging, and emerging digital health technologies (DHTs). Methods: A modified Delphi approach was conducted by the Italian Fabry Disease Neurological Working Group. Neurologists and neuroradiologists from Italian centers of excellence reviewed the literature, developed key statements, and participated in structured anonymous voting. The process followed European guidelines for rare diseases and included both pre-meeting surveys and an in-person consensus workshop. Results: Strong consensus was reached on a comprehensive set of clinical, functional, and patient-reported outcome measures for assessing neurological involvement in FD across age groups. Recommendations were made for brain imaging protocols, cognitive screening tools, pain and autonomic function assessments. Several clinical tools developed for related monogenic small vessel diseases may be applicable, but their use in FD requires further validation. No validated DHTs for FD assessment currently exist, and their integration into clinical research requires further investigation. Conclusions: These consensus-based recommendations represent the first systematic effort to standardize neurological outcome measures in FD. They aim to support clinical monitoring and guide future clinical trials, while highlighting the need for prospective validation studies and development of FD-specific digital tools.
Neurological management and outcome measures in Fabry disease: consensus statements from the Italian Fabry disease neurological working group
Bersano, Anna;Pichiecchio, Anna;
2026-01-01
Abstract
Background: Fabry disease (FD) is a rare X-linked lysosomal storage disorder with significant neurological involvement affecting the central, peripheral, and autonomic nervous systems. Despite its clinical burden, clear guidelines or clinical tools for the neurological assessment and monitoring of FD remain limited. Aim of the present work is to develop expert consensus recommendations on neurological management and outcome measures in FD, including the use of clinical scales, patient-reported outcome measures (PROMs), neuroimaging, and emerging digital health technologies (DHTs). Methods: A modified Delphi approach was conducted by the Italian Fabry Disease Neurological Working Group. Neurologists and neuroradiologists from Italian centers of excellence reviewed the literature, developed key statements, and participated in structured anonymous voting. The process followed European guidelines for rare diseases and included both pre-meeting surveys and an in-person consensus workshop. Results: Strong consensus was reached on a comprehensive set of clinical, functional, and patient-reported outcome measures for assessing neurological involvement in FD across age groups. Recommendations were made for brain imaging protocols, cognitive screening tools, pain and autonomic function assessments. Several clinical tools developed for related monogenic small vessel diseases may be applicable, but their use in FD requires further validation. No validated DHTs for FD assessment currently exist, and their integration into clinical research requires further investigation. Conclusions: These consensus-based recommendations represent the first systematic effort to standardize neurological outcome measures in FD. They aim to support clinical monitoring and guide future clinical trials, while highlighting the need for prospective validation studies and development of FD-specific digital tools.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
