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

Sponsor

Genzyme, a Sanofi Company (Industry)

Overall Status

Terminated

CT.gov ID

NCT01839526

Collaborator

(none)

Enrollment

Locations

Arm

Duration (Months)

1.8

Patients Per Site

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Fabry Disease	Drug: Iohexol	Phase 1

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.

Study Design

Study Type:

Interventional

Actual Enrollment :

39 participants

Allocation:

N/A

Intervention Model:

Single Group Assignment

Masking:

None (Open Label)

Primary Purpose:

Basic Science

Official Title:

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

Study Start Date :

May 1, 2013

Actual Primary Completion Date :

Sep 1, 2016

Actual Study Completion Date :

Sep 1, 2016

Arms and Interventions

Arm	Intervention/Treatment
Other: Glomerular Filtration Rate by Plasma Iohexol Clearance (iGFR) Evaluations of renal and cardiac function	Drug: 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.

Arm

Intervention/Treatment

Other: Glomerular Filtration Rate by Plasma Iohexol Clearance (iGFR)

Evaluations of renal and cardiac function

Drug: 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.

Outcome Measures

Primary Outcome Measures

Glomerular Filtration Rate Estimated from Serum Creatinine (eGFR) [Day 1 to Week 8]
Tests are performed only for patients who are not on chronic dialysis and/or have not received a kidney transplant.
Glomerular Filtration Rate by Plasma Iohexol Clearance (iGFR) [Day 1 to Week 8]
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).
Protein Excretion Assessed from Three First-Morning Urine Voids [Day 1 to Week 12]

Secondary Outcome Measures

Cardiovascular Function [Day 1 to Week 8]
Assessed by electrocardiogram (ECG) and echocardiography

Eligibility Criteria

Criteria

Ages Eligible for Study:

5 Years to 25 Years

Sexes Eligible for Study:

Male

Accepts Healthy Volunteers:

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.

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Investigational Site Number 840010	La Jolla	California	United States	92093
2	Investigational Site Number 840006	Decatur	Georgia	United States	30033
3	Investigational Site Number 840003	Cincinnati	Ohio	United States	45229-3039
4	Investigational Site Number 840009	Salt Lake City	Utah	United States	84132
5	Investigational Site Number 840002	Fairfax	Virginia	United States	22030
6	Investigational Site Number 032001	Capital Federal		Argentina	1425
7	Investigational Site Number 040001	Wien		Austria	1090
8	Investigational Site Number 056001	Liège		Belgium	4000
9	Investigational Site Number 076001	Porto Alegre		Brazil	90035 003
10	Investigational Site Number 124001	Montreal		Canada	H4J 1C5
11	Investigational Site Number 124004	Toronto		Canada	M5G 1X8
12	Investigational Site Number 246002	Vaasa		Finland	65130
13	Investigational Site Number 250002	Bron Cedex		France	69677
14	Investigational Site Number 250001	Garches		France	92380
15	Investigational Site Number 348001	Pécs		Hungary	7623
16	Investigational Site Number 578001	Bergen		Norway	5021
17	Investigational Site Number 616001	Warszawa		Poland	04-730
18	Investigational Site Number 724001	Badalona		Spain	08916
19	Investigational Site Number 724002	Girona		Spain	17007
20	Investigational Site Number 158001	Taipai		Taiwan	10043
21	Investigational Site Number 826004	London		United Kingdom	NW1 2PJ
22	Investigational Site Number 826002	London		United Kingdom	WC1N 3JH

Sponsors and Collaborators

Genzyme, a Sanofi Company

Investigators

Study Director: Medical Monitor, Genzyme, a Sanofi Company

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

Genzyme, a Sanofi Company

ClinicalTrials.gov Identifier:

NCT01839526

Other Study ID Numbers:

AGAL19110
2012-001966-14
MSC 12711

First Posted:

Apr 25, 2013

Last Update Posted:

Dec 16, 2020

Last Verified:

Oct 1, 2016

Keywords provided by Genzyme, a Sanofi Company

Fabry disease

Additional relevant MeSH terms:

Fabry Disease

Study Results

No Results Posted as of Dec 16, 2020