ArticleMolecular genetics and metabolism reports2026
Key considerations for measuring α-galactosidase A activity after long-term migalastat therapy-Avoiding in vitro inhibition effects.
Article in Molecular genetics and metabolism reports, 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
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Assessment of α-galactosidase A (α-GAL) activity is a reliable method for evaluating the pharmacological efficacy of migalastat (Galafold) in Fabry disease patients undergoing chaperone therapy. Although some of mutant α-GAL retain normal catalytic function, their aberrant conformations lead to intracellular degradation and impaired lysosomal trafficking. Approximately 30% of Japanese Fabry patients are reported to be responsive to migalastat. In such cases, measurable enzyme activity following migalastat administration suggests successful stabilization and lysosomal delivery of the mutant enzymes. To monitor long-term therapeutic effects, dried blood spots (DBSs) are periodically prepared from patient samples as a convenient method for α-GAL activity measurement. However, residual migalastat in blood escaped from excretion can competitively inhibit the substrate 4-Metylumbellifel-α-D-galactoside (4-MUG) during DBS-based assays, resulting in underestimated enzyme activity. To address this, we investigated the impact of migalastat interference and demonstrated that removing migalastat using Amicon®Ultra filter from DBS samples enables accurate assessment of α-GAL activity for monitoring therapeutic response in Fabry disease.
Indexed as
Identifiers
What Socratic 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 Socratic graph.