No investigational drug will be administered in this study for the treatment of Fabry disease. This will be a multicenter, multinational, non-treatment, cross-sectional study of young male patients with Fabry disease who have not yet initiated interventional treatment for this disease. The study will consist of a screening visit(s), a clinical investigation visit(s), and a follow-up phone contact. The objectives of the study are: * To document renal function and other Fabry disease manifestations across age in treatment-naïve, young male patients with Fabry disease. * To provide a reference group for comparison with interventional clinical trials of Fabry disease. The duration of each patient's participation in the study, inclusive of the screening visit and follow-up phone contact, will be approximately 12 weeks.
Patients who meet all eligibility criteria based on screening assessments will be scheduled to return to the clinic for assessments of renal function and other disease-related parameters, which may be scheduled over one or more clinical investigation visits. The clinical investigation visit(s) will be scheduled such that renal and cardiac assessments occur after the required medication washout (see exclusion criterion); other procedures may be performed either before or after the medication washout, at the discretion of the investigator. Up to 100 patients will be enrolled in the study, including a minimum of 15 patients in each of the following age groups (based on age at screening): 5 to 11 years, 12 to 17 years, and 18 to 25 years. All patients will be encouraged to enroll in the Fabry Registry (NCT00196742) for continued follow-up after completion of the study.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
BASIC_SCIENCE
Masking
NONE
Enrollment
39
Evaluations of renal and cardiac function are standard-of-care in young patients with Fabry disease. This study uses the more precise iGFR measurement of renal function. No investigational drug will be administered in this study for the treatment of Fabry disease.
Investigational Site Number 840010
La Jolla, California, United States
Investigational Site Number 840006
Decatur, Georgia, United States
Investigational Site Number 840003
Cincinnati, Ohio, United States
Investigational Site Number 840009
Salt Lake City, Utah, United States
Investigational Site Number 840002
Fairfax, Virginia, United States
Investigational Site Number 032001
Capital Federal, Argentina
Investigational Site Number 040001
Vienna, Austria
Investigational Site Number 056001
Liège, Belgium
Investigational Site Number 076001
Porto Alegre, Brazil
Investigational Site Number 124001
Montreal, Canada
...and 12 more locations
Glomerular Filtration Rate Estimated from Serum Creatinine (eGFR)
Tests are performed only for patients who are not on chronic dialysis and/or have not received a kidney transplant.
Time frame: Day 1 to Week 8
Glomerular Filtration Rate by Plasma Iohexol Clearance (iGFR)
Assessment of iGFR will NOT be performed if a patient is on chronic dialysis, has had a kidney transplant, or has a screening eGFR \<30 mL/min/1.73 m\^2 or presents any contraindication mentioned in the labeling of iohexol (Omnipaque™ 300).
Time frame: Day 1 to Week 8
Protein Excretion Assessed from Three First-Morning Urine Voids
Time frame: Day 1 to Week 12
Cardiovascular Function
Assessed by electrocardiogram (ECG) and echocardiography
Time frame: Day 1 to Week 8
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