[Enzyme replacement therapy of Fabry's disease: the French experience]

Author(s): Guffon N

Affiliation(s): Service de pediatrie, departement des maladies metaboliques, hopital Edouard-Herriot, 5, place d'Arsonval, 69003 Lyon, France. nathalie.guffon-fouilhoux@chu-lyon.fr

Publication date & source: 2006-01, Nephrol Ther., 2 Suppl 2:S162-6.

Publication type: English Abstract

This study describes the experience of one to five years of follow-up of 43 patients (35 men, 8 women, 40% have less than 18 years to the moment of the diagnostic) after treatment of Fabry's disease by Fabrazyme. A simple self-report questionnaire was developed in order to measure the effectiveness of the treatment on pain (present in the vast majority of patients since many years), activity, heat tolerance, sudation, well-being sensation before and after treatment. Pain and quality of life scores increased. Mean ventricular wall thickness and left ventricular hypertrophy measured by echography decreased. Patients with subnormal renal function (GFR > 60 ml/min) remain a stable renal function during the follow-up. The standard dosage was of 1 mg per KgBW every 2 weeks. Related adverse events were described and were usually mild.