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

NCT01839526 | Terminated Phase 1

• 3 other identifiers: AGAL191102012-001966-14MSC 12711
• Study Type: interventional
• Target: 39
• Locations: 14 countries
• Sites: 22

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.

Conditions

Fabry Disease

Keywords

Fabry disease

Outcome Measures

Primary Outcomes (3)

• 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.

  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).

  Day 1 to Week 8

• Protein Excretion Assessed from Three First-Morning Urine Voids

  Day 1 to Week 12

Secondary Outcomes (1)

• Cardiovascular Function

  Day 1 to Week 8

Study Arms (1)

Glomerular Filtration Rate by Plasma Iohexol Clearance (iGFR)

OTHER

Evaluations of renal and cardiac function

Drug: Iohexol

Interventions

Iohexol 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.

Glomerular Filtration Rate by Plasma Iohexol Clearance (iGFR)

Eligibility Criteria

• Age: 5 Years - 25 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Genzyme, a Sanofi Company: lead

Study Sites (22)

Investigational Site Number 840010

La Jolla, California, 92093, United States

Location

Investigational Site Number 840006

Decatur, Georgia, 30033, United States

Location

Investigational Site Number 840003

Cincinnati, Ohio, 45229-3039, United States

Location

Investigational Site Number 840009

Salt Lake City, Utah, 84132, United States

Location

Investigational Site Number 840002

Fairfax, Virginia, 22030, United States

Location

Investigational Site Number 032001

Capital Federal, 1425, Argentina

Location

Investigational Site Number 040001

Vienna, 1090, Austria

Location

Investigational Site Number 056001

Liège, 4000, Belgium

Location

Investigational Site Number 076001

Porto Alegre, 90035 003, Brazil

Location

Investigational Site Number 124001

Montreal, H4J 1C5, Canada

Location

Investigational Site Number 124004

Toronto, M5G 1X8, Canada

Location

Investigational Site Number 246002

Vaasa, 65130, Finland

Location

Investigational Site Number 250002

Bron, 69677, France

Location

Investigational Site Number 250001

Garches, 92380, France

Location

Investigational Site Number 348001

Pécs, 7623, Hungary

Location

Investigational Site Number 578001

Bergen, 5021, Norway

Location

Investigational Site Number 616001

Warsaw, 04-730, Poland

Location

Investigational Site Number 724001

Badalona, 08916, Spain

Location

Investigational Site Number 724002

Girona, 17007, Spain

Location

Investigational Site Number 158001

Taipai, 10043, Taiwan

Location

Investigational Site Number 826004

London, NW1 2PJ, United Kingdom

Location

Investigational Site Number 826002

London, WC1N 3JH, United Kingdom

Location

MeSH Terms

Conditions

Fabry Disease

Interventions

Iohexol

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Intervention Hierarchy (Ancestors)

Triiodobenzoic Acids; Iodobenzoates; Benzoates; Acids, Carbocyclic; Carboxylic Acids; Organic Chemicals; Benzene Derivatives; Hydrocarbons, Aromatic; Hydrocarbons, Cyclic; Hydrocarbons

Study Officials

• Medical Monitor

  Genzyme, a Sanofi Company

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 11, 2013
• First Posted: April 25, 2013
• Study Start: May 1, 2013
• Primary Completion: September 1, 2016
• Study Completion: September 1, 2016
• Last Updated: December 16, 2020

Record last verified: 2016-10

Locations

FI (1); ES (2); AR (1); TW (1); US (5); AU (1); CA (2); HU (1); NO (1); BE (1); GB (2); FR (2); BR (1); PL (1)