Overview

A Study of Renal Function in Treatment-naïve, Young Male Patients With Fabry Disease

Status:
Terminated
Trial end date:
2016-09-01
Target enrollment:
0
Participant gender:
Male
Summary
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.
Phase:
Phase 1
Accepts Healthy Volunteers?
No
Details
Lead Sponsor:
Genzyme, a Sanofi Company
Criteria
Inclusion Criteria:

- 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.

- The patient must have a confirmed diagnosis of Fabry disease as documented by
leukocyte α-galactosidase A (αGAL) of <4 nmol/hr/mg leukocyte (preferred assay;
results from a central laboratory). If the leukocyte αGAL activity assay is difficult
to obtain, the patient may be enrolled based on documented plasma αGAL <1.5 nmol/hr/mL
(results from a central laboratory), with the agreement of the Genzyme Medical
Monitor.

Exclusion Criteria:

- Patient has received prior treatment with enzyme replacement therapy (ERT) or oral
pharmacological chaperone therapy for Fabry disease.

- Patient has received an investigational drug within 30 days of the screening visit.

- 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.

- Patient has any contraindication mentioned in the labeling of iohexol. NOTE: patients
with an eGFR <30 mL/min/1.73m^2 and patients who are on chronic dialysis or have had a
kidney transplant may be enrolled irrespective of any contraindication to iohexol
because iGFR will not be measured in these patients.

- Patient has any medical condition or extenuating circumstance which, in the opinion of
the Investigator, could interfere with the patient's ability to complete all study
procedures, or with the interpretation of study results (e.g., diabetes mellitus).

- The patient and/or their parent or legal guardian, in the opinion of the Investigator,
is unable to adhere to the requirements of the study.