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Trial record 1 of 96 for:    Fabry Disease
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Canadian Fabry Disease Initiative (CFDI) Enzyme Replacement Therapy (ERT) Study

This study is currently recruiting participants. (see Contacts and Locations)
Verified February 2015 by Canadian Fabry Research Consortium
Capital District Health Authority, Canada
Information provided by (Responsible Party):
Canadian Fabry Research Consortium Identifier:
First received: March 30, 2007
Last updated: February 5, 2015
Last verified: February 2015


Fabry disease is a rare, inherited, genetic condition due to a deficiency of an enzyme called alpha-galactosidase A. This enzyme deficiency causes the small blood vessels to accumulate a substance called glycolipid. Without sufficient levels of the enzyme, alpha-galactosidase A, persons with Fabry Disease develop severe neuropathic pain, kidney disease, heart disease, stroke and/or premature death; often before the age of 60.

Fabry Disease is estimated to affect approximately one out of every 40,000 males and up to twice as many females in Canada. We do not have the exact number of persons in Canada who have this disease. A common problem in studying rare conditions is the difficulty in identifying the majority of people suffering from such a disease. Gathering their health information in order to better understand the natural disease progression and its response to treatment is difficult.

Until recently, treating symptoms was all that was available for people with Fabry Disease. In 2001, enzyme replacement therapy (ERT) was developed as a treatment for this rare condition. ERT provides the deficient enzyme and may be beneficial in Fabry Disease. The Canadian Fabry Disease Initiative (CFDI) will determine the impact of Enzyme Replacement Therapy (ERT) on the development of complications of Fabry Disease in males and females currently on, or who have received ERT; and to assess which of these complications respond to the ERT therapy. Another purpose of this study is to establish a national registry which will collect information on all persons with Fabry Disease in Canada.

Early ERT studies involving humans had small numbers of subjects and the studies were of short duration. The results of these clinical studies did lead to approval of the therapy in many countries around the world including Canada. To date though, evidence of the usefulness of ERT and its direct impact on the natural course of Fabry disease has been limited, while its cost continues to be very high. As a result of these issues, there will need to be continued and long-term collection of information related to the effectiveness of ERT to better document its true clinical outcomes in Canadian people with Fabry disease.

Condition Intervention Phase
Fabry Disease
Drug: agalsidase alfa
Drug: Agalsidase beta
Phase 4

Study Type: Interventional
Study Design: Allocation: Randomized
Endpoint Classification: Safety/Efficacy Study
Intervention Model: Parallel Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: Enzyme Replacement Therapy for Fabry Disease: A Model for the Integration of Rare Disease Therapeutics Into the Canadian Health Care System

Resource links provided by NLM:

Further study details as provided by Canadian Fabry Research Consortium:

Primary Outcome Measures:
  • (1) To determine the degree to which existing complications of Fabry disease respond or fail to respond to ERT; [ Time Frame: 2017 ] [ Designated as safety issue: Yes ]

Secondary Outcome Measures:
  • (2) To establish a national registry which will collect information related to the identification and monitoring of all persons with Fabry disease in Canada; [ Time Frame: 2017 ] [ Designated as safety issue: No ]
  • 3) To determine the impact of ERT on the development of complications of Fabry disease in men and women who are on ERT or whose ERT was interrupted; [ Time Frame: 2017 ] [ Designated as safety issue: Yes ]
  • 4) To identify which of these clinical problems can best predict the outcome of ERT on Fabry disease. [ Time Frame: 2017 ] [ Designated as safety issue: Yes ]
  • 5) To identify possible side effects of ERT [ Time Frame: 2017 ] [ Designated as safety issue: Yes ]

Estimated Enrollment: 600
Study Start Date: January 2007
Estimated Study Completion Date: March 2017
Estimated Primary Completion Date: March 2017 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Active Comparator: Cohort 1A
Cohort 1A are Fabry Disease subjects who are currently on enzyme replacement therapy (ERT) or have had ERT interrupted and will continue the same ERT drug as before Agalsidase alfa Replagal® 0.2 mg/kg IV Q2weeks or Agalsidase beta Fabrazyme® 1 mg/kg IV Q2 weeks). Estimated total of 100 Cohort 1A subjects.
Drug: agalsidase alfa
agalsidase alfa (Replagal®) 0.2 mg/kg IV Q2weeks
Other Name: Replagal®
Drug: Agalsidase beta
Agalsidase beta Fabrazyme® 1 mg/kg IV Q2 weeks
Other Name: Fabrazyme®
Active Comparator: Cohort 1B
Cohort 1B subjects have Fabry Disease and have never received ERT, but now meet the Canadian Fabry Guidelines to initiate ERT with Agalsidase alfa Replagal® 0.2 mg/kg IV Q2weeks or Agalsidase beta Fabrazyme® 1 mg/kg IV Q2 weeks. An estimated 200 Cohort 1B subjects will be enrolled in Canada.
Drug: agalsidase alfa
agalsidase alfa (Replagal®) 0.2 mg/kg IV Q2weeks
Other Name: Replagal®
Drug: Agalsidase beta
Agalsidase beta Fabrazyme® 1 mg/kg IV Q2 weeks
Other Name: Fabrazyme®
No Intervention: Natural History Cohort
Natural History Cohort subjects have mild Fabry Disease who currently do not need ERT. Annual follow up for Fabry related complications will be done. If and when the subjects meet criteria for ERT, they will be moved into Cohort 1 B

  Show Detailed Description


Ages Eligible for Study:   5 Years to 85 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No


(A) ALL of the following criteria must be met for each CFDI subject in Cohort 1A, Cohort 1B & the Natural History Cohort:

  • Age 5 years and older, up to & including age 85 years; and
  • Able to give informed consent; and
  • A clinical diagnosis of Fabry disease; and
  • Compliance with all the clinic visits, questionnaires, interviews and assessments during the study period; and
  • A Canadian citizen or a landed immigrant For Cohort 1A and Cohort 1B, each subject must also be able to tolerate Enzyme Replacement Therapy (ERT)


  • Intolerance to ERT, such as a serious drug reaction; or
  • Enrolment in another clinical study in the last 30 days; or
  • Problem complying with all the clinic visits, questionnaires, interviews and assessments during the study period; or
  • An estimated life expectancy of less than 12 months
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00455104

Contact: Michael L. West, MD 902-473-4023
Contact: Kaye Le Moine, RN 902-473-5770

Canada, Alberta
Alberta Children's Hospital Recruiting
Calgary, Alberta, Canada, T2T 5C7
Contact: Aneal Khan, MD    403-955-7211   
Contact: Colleen McNeil    403-955-7941   
Principal Investigator: Aneal Khan, MD         
Canada, British Columbia
Vancouver General Hospital Adult Metabolic Diseases Clinic Recruiting
Vancouver, British Columbia, Canada, V5Z 1M9
Contact: Sandra Sirrs, MD    604-875-5965   
Contact: Wendy Paquin, RN    604-875-5965   
Principal Investigator: Sandra Sirrs, MD, FRCPC         
Canada, Nova Scotia
Queen Elizabeth II Health Sciences Centre Recruiting
Halifax, Nova Scotia, Canada, B3H 1V8
Contact: Michael L West, MD    902-473-4023   
Contact: Laurie Kay, RN    902-473-2082   
Principal Investigator: Michael L West, MD         
Canada, Ontario
Hospital for Sick Children Recruiting
Toronto, Ontario, Canada, M5G 1X8
Contact: Joe T. Clarke, MD, FRCP(C)    416-813-5340   
Contact: Syed Wasim    416-586-4800 ext 4231   
Principal Investigator: Joe Clarke, MD         
Canada, Quebec
University of Montreal, Department of Medicine Recruiting
Montreal, Quebec, Canada
Contact: Daniel Bichet, MD    514-338-2222 ext 2173   
Contact: Carole Fortier, RN    514-338-2222 ext 3110   
Principal Investigator: Daniel Bichet, MD         
Sponsors and Collaborators
Canadian Fabry Research Consortium
Capital District Health Authority, Canada
Principal Investigator: Michael L West, MD Queen Elizabeth II Health Sciences Centre (Capital District Health Authority), Halifax, Nova Scotia, Canada
  More Information

Additional Information:
No publications provided

Responsible Party: Canadian Fabry Research Consortium Identifier: NCT00455104     History of Changes
Other Study ID Numbers: CFDI 001
Study First Received: March 30, 2007
Last Updated: February 5, 2015
Health Authority: United States: Data and Safety Monitoring Board

Keywords provided by Canadian Fabry Research Consortium:
Fabry Disease
Enzyme Replacement Therapy (ERT)

Additional relevant MeSH terms:
Fabry Disease
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Cardiovascular Diseases
Central Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Lipid Metabolism Disorders
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Metabolic Diseases
Nervous System Diseases
Vascular Diseases
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Sphingolipidoses processed this record on March 03, 2015