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

NCT ID: NCT01839526

Last Updated: 2020-12-16

Basic Information

• Recruitment Status: TERMINATED
• Clinical Phase: PHASE1
• Total Enrollment: 39 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2013-05-31
• Study Completion Date: 2016-09-30

Brief 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.

Detailed Description

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.

Conditions

Fabry Disease

Keywords

Fabry disease

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: BASIC_SCIENCE
• Blinding Strategy: NONE

Study Groups

Glomerular Filtration Rate by Plasma Iohexol Clearance (iGFR)

Evaluations of renal and cardiac function

Group Type: OTHER

Iohexol

Intervention Type: DRUG

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.

Interventions

Iohexol

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.

Intervention Type: DRUG

Eligibility 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.

• Minimum Eligible Age: 5 Years
• Maximum Eligible Age: 25 Years
• Eligible Sex: MALE
• Accepts Healthy Volunteers: No

Sponsors

Genzyme, a Sanofi Company

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Medical Monitor

Role: STUDY_DIRECTOR

Genzyme, a Sanofi Company

Locations

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

Investigational Site Number 124004

Toronto, , Canada

Investigational Site Number 246002

Vaasa, , Finland

Investigational Site Number 250002

Bron, , France

Investigational Site Number 250001

Garches, , France

Investigational Site Number 348001

Pécs, , Hungary

Investigational Site Number 578001

Bergen, , Norway

Investigational Site Number 616001

Warsaw, , Poland

Investigational Site Number 724001

Badalona, , Spain

Investigational Site Number 724002

Girona, , Spain

Investigational Site Number 158001

Taipai, , Taiwan

Investigational Site Number 826004

London, , United Kingdom

Investigational Site Number 826002

London, , United Kingdom

Countries

United States; Argentina; Austria; Belgium; Brazil; Canada; Finland; France; Hungary; Norway; Poland; Spain; Taiwan; United Kingdom

Other Identifiers

2012-001966-14

Identifier Type: EUDRACT_NUMBER

Identifier Source: secondary_id

MSC 12711

Identifier Type: OTHER

Identifier Source: secondary_id

AGAL19110

Identifier Type: -

Identifier Source: org_study_id