ArticleOrphanet journal of rare diseases2025
Impact of enzyme replacement therapy and migalastat on disease progression in females with fabry disease.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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The trial behind it
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Fabry disease cardiomyopathy: A state-of-the-art review.Progress in cardiovascular diseasesPooled it
- Long-term efficacy of migalastat in females with Fabry disease.Journal of medical genetics · 2025Trial
- Fabry Disease: An Updated Perspective and Review of Treatment and Therapies.Advances in therapy · 2026Review
- Key considerations for measuring α-galactosidase A activity after long-term migalastat therapy-Avoiding in vitro inhibition effects.Molecular genetics and metabolism reports · 2026Article
- A multigenerational fabry disease case caused by aJournal of family medicine and primary care · 2026Article
- Fabry Disease: A Focus on the Role of Oxidative Stress.Antioxidants (Basel, Switzerland) · 2026Review
- Fabry Disease Beyond Storage: The Role of Inflammation in Disease Progression.International journal of molecular sciences · 2025Review
- Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review.Journal of clinical medicine · 2025Review
- Progress and Challenges in the Treatment of Fabry Disease.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2025Review
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimThe aim of our multicenter study was to investigate the safety and efficacy of enzyme replacement therapy (ERT) and chaperone therapy on the disease progression in female Fabry disease (FD) patients and to compare the individual treatment regimens.
methodsData from 3 consecutive visits of 102 female FD patients from 6 Fabry centers were retrospectively analyzed. According to their FD-specific treatment, patients were separated in 5 groups: Newly agalsidase-beta- [n = 18], agalsidase-alfa- [n = 29] and migalastat-[n = 14] treated patients, and long-term agalsidase-beta- [n = 7] and agalsidase-alfa-[n = 34] treated patients. Clinical presentation and laboratory data, including plasma lyso-Gb
resultsTreatment with agalsidase-beta, agalsidase-alfa, and migalastat was safe and severe adverse events were rare. Newly and long-term-treated patients presented a stable disease course over time. None of the patients required hospitalization due to cardiac events. Overall septum thickness remained stable in all groups (p > 0.05). Estimated glomerular filtration rate (eGFR) only slightly decreased in patients treated with agalsidase-alfa [newly- and long-term-treated: -1.5 ± 3.2 and - 1.3 ± 3.9 ml/min/1.73 m²/year; p = 0.0056 and p = 0.0187, respectively] but the decrease was in the range of natural eGFR decline. eGFRs in agalsidase-beta and migalastat-treated patients were stable. No clinically relevant differences concerning treatment efficacy between agalasidase-beta, agalsidase-alfa, and migalastat were detected.
conclusionWe conclude that treatment of females with agalsidase-beta, agalsidase-alfa, and migalastat was safe. Independent of the chosen treatment regimen, nearly all patients presented with a stable disease course over time. In our cohort, a comparison of therapy efficacies showed no relevant clinical differences between the groups.
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