Orphanet journal of rare diseases · 2025
Impact of enzyme replacement therapy and migalastat on disease progression in females with fabry disease.
СтатьяМногоцентровое исследованиеНазвание и аннотация: Перевод в очереди
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Lenders Malte, Nowak Albina, Cybulla Markus, Kaufeld Jessica, Köhn Anja Friederike, Muschol Nicole Maria, Kurschat Christine, Brand Eva
Аннотация
AIM: The 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.
METHODS: Data 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-Gb3 levels were assessed.
RESULTS: Treatment 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.
CONCLUSION: We 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.
METHODS: Data 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-Gb3 levels were assessed.
RESULTS: Treatment 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.
CONCLUSION: We 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.