Evidence map›Paper›PMID 41402951›Full record

ArticleNeurological research and practice2025

Impact of migalastat on cerebral outcomes in fabry disease - results from the prospective observational FAMOUS trial.

Momoko Choudhury, Malte Lenders, Pauline Laufer, Max Masthoff, Sima Canaan-Kühl, Christine Kurschat, Nicole Muschol, Julia B Hennermann, Markus Cybulla, Jessica Kaufeld and 2 more

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In one paragraph

Article in Neurological research and practice, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Momoko ChoudhuryDepartment of Neurology, University Hospital Muenster, Muenster, Germany.
Malte LendersDepartment of Internal Medicine D, and Interdisciplinary Fabry Center (IFAZ), University Hospital Muenster, Muenster, Germany.
Pauline LauferDepartment of Neurology, University Hospital Muenster, Muenster, Germany.
Max MasthoffClinic of Radiology, University and University Hospital Muenster, Muenster, Germany.
Sima Canaan-KühlDepartment of Nephrology and Medical Intensive Care, Fabry Zentrum, Center for Rare Kidney Diseases (CeRKiD), Campus Charité Mitte, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Christine KurschatDepartment II of Internal Medicine, Center for Molecular Medicine Cologne, Center for Rare Dis-eases, University of Cologne, Cologne, Germany.
Nicole MuscholInternational Center for Lysosomal disorders (ICLD), Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Julia B HennermannDepartment for Pediatric and Adolescent Medicine, University Medical Center Mainz, Villa Metabolica, Mainz, Germany.
Markus CybullaDepartment of Nephrology and Rheumatology, Nephrologicum-MGL MVZ, Muellheim, Germany.
Jessica KaufeldDepartment of Nephrology and Hypertension, Hannover Medical School, Hannover, Germany.
Eva Brand *Department of Internal Medicine D, and Interdisciplinary Fabry Center (IFAZ), University Hospital Muenster, Muenster, Germany.
Antje Bischof *Department of Neurology, University Hospital Muenster, Muenster, Germany. Antje.Bischof@ukbonn.de.ORCID http://orcid.org/0000-0003-3862-5738

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundFabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A (GLA) gene, leading to an increased risk for white matter lesion (WML), stroke and cerebral microbleeds. Utilizing MRI data from the prospective observational FAMOUS study we assessed MRI characteristics of FD and treatment effects of migalastat.

methods19 patients with pathogenic (PV) and 14 patients with likely benign genetic variants (LBV: p.A143T, p.D313Y, and p.S126G) underwent MRI at baseline and 24 month-follow up under migalastat treatment. WML load, using Fazekas and Scheltens scores, basilar artery diameter (BAD), and the occurrence of strokes and cerebral microbleeds were assessed. Patients were compared by variant type (PV/LBV) and presence of arterial hypertension.

resultsWML load was low to moderate and remained stable. Four PV patients showed progress by visual examination. WML load was similar between PV and LBV groups. Patients with arterial hypertension had a higher Scheltens score. PV patients had higher BAD. No patient showed cerebral microbleeds. One PV patient with coincident multiple sclerosis demonstrated a positive central vein sign.

conclusionOur data suggest that microangiopathic lesion load remains relatively stable under migalastat. Antihypertensive therapy may be important to reduce WML in FD. Further studies are needed to assess the cerebral effect of migalastat therapy.

Indexed as

Basilar artery diameterCentral vein signCerebral small vessel diseaseFabry diseaseMigalastatMRIMultiple sclerosisStrokeWhite matter hyperintensities

Identifiers

PMID41402951
PMCPMC12706964

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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.