inherited enzyme deficiency metabolic disorder
Conditions
Interventions
None listed
Sponsors
Sanofi-aventis
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: A patient must meet all of the following criteria to be eligible for this study. 1. The patient and/or their parent/legal guardian is willing and able to provide signed informed consent. If the patient is below the age of consent per local guidelines, he is willing to provide assent, if deemed able to do so. 2. The patient must have a confirmed diagnosis of Fabry disease as documented by leukocyte a-galactosidase A (aGAL) of =5 and
Exclusion criteria
Exclusion criteria: A patient who meets any of the following criteria will be excluded from this study. 1. Patient has received prior treatment with enzyme replacement therapy (ERT) or oral pharmacological chaperone therapy for Fabry disease. 2. Patient has received an investigational drug within 30 days of the screening visit. 3. Patient is receiving any of the following medications and is clinically unable or unwilling to temporarily discontinue treatment with these medications for the indicated washout period prior to the renal function assessments until completion of these assessments: •Angiotensin converting enzyme inhibitors or angiotensin receptor blockers (6 week washout); • Non-steroidal anti-inflammatory drugs (3 day washout). NOTE: Patients who are on chronic dialysis or have had a kidney transplant will not be required to discontinue the above medications because renal function assessments will not be performed in these patients. 4. Patient has any contraindication mentioned in the labeling of iohexol. NOTE: patients with an eGFR
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Safety endpoints: The safety of study procedures will be assessed by evaluation of the incidence of adverse events (AEs). Fabry Disease Parameters: * Renal Function (all assessments by central laboratories): • GFR estimated from serum creatinine using age-appropriate formulas (eGFR). • GFR measurement by plasma iohexol clearance (iGFR). NOTE: iGFR will not be measured for patients with a screening eGFR | — |
Secondary
| Measure | Time frame |
|---|---|
| Exploratory Biomarkers (all assessments by central laboratories): •Blood and urine samples will also be collected for exploratory analyses of potential biomarkers of Fabry disease, which will be identified on the basis of emerging scientific data and will be analyzed individually or in multi-analyte biomarker panels. Blood and urine samples collected for exploratory biomarker analyses in this study will not be used for genetic testing. | — |
Countries
Netherlands
Outcome results
None listed