ArticleOrphanet journal of rare diseases2026
Neurological management and outcome measures in Fabry disease: consensus statements from the Italian Fabry disease neurological working group.
Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFabry 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).
methodsA 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.
resultsStrong 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.
conclusionsThese 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.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.