BACKGROUND Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency leading to renal, cardiac, cerebrovascular disease and premature death. Treatment with α-galactosidase A (enzyme replacement therapy, ERT) stabilises disease in some patients, but long term effectiveness is unclear. METHODS Renal, cardiac, and cerebral outcomes were prospectively studied ...

BACKGROUND The Canadian Fabry disease initiative (CFDI) tracks outcomes of subjects with Fabry disease treated enzyme replacement therapy (ERT) given to subjects who meet evidence-based treatment guidelines and cardiovascular risk factor modification. METHODS We report 5 year follow-up data on 362 subjects for a composite endpoint (death, neurologic or cardiovascular events, development of en...

OBJECTIVE Although enzyme replacement therapy (ERT) is a highly effective therapy, CRIM-negative (CN) infantile Pompe disease (IPD) patients typically mount a strong immune response which abrogates the efficacy of ERT, resulting in clinical decline and death. This study was designed to demonstrate that immune tolerance induction (ITI) prevents or diminishes the development of antibody titers, r...

There is currently intense controversy regarding the use of hormone replacement therapy (HRT) in postmenopausal women, in relation to its therapeutic efficacy in Alzheimer's disease (AD). It has been suggested that the benefits of HRT may be modified by apolipoprotein E (APOE) genotype (the major genetic risk factor for AD). Here we report the findings of the first study designed to systematica...

[1] Electrical resistivity tomography (ERT) has proved to be a valuable tool for imaging solute transport processes in the subsurface. However, a quantitative interpretation of corresponding ERT results is constrained by a number of factors. One such factor is the nonuniqueness of the ERT inverse problem if no additional constraints are imposed. In the vadose zone, further problems arise from t...

BACKGROUND Osteoarthritis (OA) is increasingly prevalent in the years after menopause. Epidemiological data suggest that the use of oestrogen replacement therapy (ERT) may protect against knee OA. AIM To test the hypothesis that long term ERT (longer than five years) is associated with increased knee cartilage in postmenopausal women. METHODS The study involved 81 women (42 current users (>...

Data from the International Collaborative Gaucher Group Gaucher Registry were analysed to assess the relationship between enzyme replacement therapy with imiglucerase (ERT) and incidence of avascular necrosis (AVN) in type 1 Gaucher disease (GD1), and to determine whether the time interval between diagnosis and initiation of ERT influences the incidence rate of AVN. All patients with GD1 enroll...

BACKGROUND Gaucher disease type 1 (GD1, OMIM# 230800), is a condition with high impact in patient's quality of life (QoL). We report the improvement in QoL of children with GD1 measured by Lansky play-performance scale (LS) after enzymatic replacement therapy (ERT) and to describe our experience in the treatment of children with GD1. METHODS Five children with diagnosis of GD1 received imiglu...

BACKGROUND/AIMS Fabry disease (FD) is a rare inherited lysosomal storage disease with common and serious kidney complications. Enzyme replacement therapies (ERT) with agalsidase-α and -β were investigated to characterize their therapeutic effect on kidney function in FD patients with Classic phenotype. METHODS The prospective FD cohort consisted of 98 genetically confirmed patients (females, ...