Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years’ treatment

Abstract

BackgroundTo explore long-term effects of agalsidase alfa on Fabry disease cardiomyopathy in adults.MethodsRetrospective analysis of prospectively collected data at a single center in Mainz, Germany, revealed that 45 adult patients (21 men, 24 women) had received agalsidase alfa for approximately 10 years. Data were extracted for cardiac and heart failure status, echocardiographic evaluations of cardiac structure and function, and renal function at treatment start and during agalsidase alfa treatment.ResultsAfter 10 years of agalsidase alfa treatment, heart failure classification had improved by at least 1 class in 22/42 patients, and angina scores were stable or improved in 41/42 patients. During treatment, no patients without left ventricular hypertrophy (LVH) at treatment initiation developed LVH, and no patients with LVH at treatment initiation showed a decline in left ventricular mass.ConclusionsApproximately 10 years of agalsidase alfa treatment appeared to have beneficial effects for controlling progression and improving some symptoms of Fabry-associated cardiomyopathy.

Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events

“…The current work represents a purely descriptive analysis of the status of treated patients; because of the lack of external comparator groups, no comparison of agalsidase alfa treated and untreated patients was possible. Our findings are consistent with other published analyses showing stable or improved cardiac or renal parameters in patients receiving ERT with agalsidase alfa [3,[8][9][10][11][12]. Compared with similar analyses in the published literature [8,[13][14][15], our analysis is based on the largest dataset of clinical events in the long-term treatment of Fabry disease to date.…”

Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy

“…GLA mutations cause Fabry disease (LVH with renal, eye, and skin manifestations), accounting for at least 1% of all cases of unexplained LVH and an even higher percentage of patients who present after age 40 (66–68). Recognition of Fabry cardiomyopathy has critical therapeutic implications, as early treatment with enzyme replacement therapy limits myocardial remodeling and maintains cardiac function (69–71). …”

Neurological Manifestations of Fabry Disease in Children and Adolescents

“…Применение ферментзаместительной терапии может смягчить негативное влияние болез-ни на нейрокогнитивное функционирование у детей [8], снизить выраженность нейропатической боли [10], улучшить функционирование различных типов нервных волокон и интрадермальных рецепторов ви-брации [30], нормализовать потоотделение, перено-симость жары, температурную чувствительность [46], уменьшить проявления синдрома беспокойных ног [15]. Ферментзаместительная терапии также способ-ствует улучшению функции и структуры сердца [40], эфективно предотвращает прогрессирование гипер-трофии левого желудочка [62].…”