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Updated: Jun 6, 2026
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Safety of agalsidase alfa in patients with Fabry disease under 7 years
U Ramaswami1, R Parini, C Kampmann
1Department of Paediatrics, Paediatric Metabolic Unit, Addenbrooke's Hospital, Cambridge, UK. uma.ramaswami@addenbrookes.nhs.uk
Aim:
To evaluate the safety and explore the efficacy of enzyme replacement therapy (ERT) for Fabry disease with agalsidase alfa in young children enrolled in the Fabry Outcome Survey (FOS).
Methods:
This retrospective chart review identified eight children (mean age= 5.0±1.6 [mean ±SD]) in FOS who began treatment with agalsidase alfa (0.2 mg/kg, i.v., every other week) when <7 years old. Vital signs and adverse events were monitored throughout the study period. Glomerular filtration rate (GFR) was estimated, and left ventricular mass indexed to height(2.7) (LVMi) was assessed with echocardiography. Patients received 1.2-6.7 years of treatment (mean=4.2 years).
Results:
Infusion reactions occurred in three patients and were of mild or moderate severity. IgG antibodies to agalsidase alfa were found in one patient who experienced two mild and one moderate infusion reactions. Mean GFR was within the normal range at baseline and remained normal. LVMi was above the 75th percentile of age-matched children in 5 of 6 patients evaluated at baseline. Only two patients exceeded this threshold at their last assessment.
Conclusion:
Long-term observation will be needed to determine whether early initiation of ERT will prevent major organ dysfunction in these patients.
