Clinical Trial: Canadian Fabry Disease Initiative (CFDI) Enzyme Replacement Therapy (ERT) Study

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional

Official Title: Enzyme Replacement Therapy for Fabry Disease: A Model for the Integration of Rare Disease Therapeutics Into the Canadian Health Care System

Brief Summary:

CFDI STUDY with ENZYME REPLACEMENT THERAPY (ERT)

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. T

Detailed Summary:

CFDI STUDY with ENZYME REPLACEMENT THERAPY (ERT): Canada-Wide Patient Recruitment

There are over 600 people in Canada known to have Fabry Disease. For more details about Fabry Disease, please refer to the "Brief Summary." The Canadian Fabry Disease Initiative will collect information from 3 different study groups of Fabry subjects recruited from across Canada over a 10-year period.

The 6 goals of this nation-wide study are as follows:

  1. To establish a national registry which will collect information related to the identification and monitoring of all persons with Fabry disease in Canada;
  2. To determine the degree to which existing complications of Fabry disease respond or fail to respond to ERT;
  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;
  4. To identify which of these clinical problems can best predict the outcome of ERT on Fabry disease;
  5. To compare the relative effectiveness in preventing complications of Fabry disease with agalsidase-alfa and agalsidase-beta in men and women who are on ERT;
  6. To identify possible side effects of ERT.

This 3-armed study will consist of 3 study populations. The first group will be referred to as Cohort 1A. This group includes males and females with Fabry Disease, who are currently on ERT or have had ERT treatment interrupted. We are expecting approximately 100 persons in Cohort 1A in total.

The second group, Cohort 1B, will consist
Sponsor: Canadian Fabry Research Consortium

Current Primary Outcome: (1) To determine the degree to which existing complications of Fabry disease respond or fail to respond to ERT; [ Time Frame: 2017 ]

Original Primary Outcome:

  • The five goals of this study are as follows:
  • To establish a national registry which will collect information related to the identification and monitoring of all persons with Fabry disease in Canada;
  • To determine the degree to which existing complications of Fabry disease respond or fail to respond to ERT;
  • 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;
  • To identify which of these clinical problems can best predict the outcome of ERT on Fabry disease; and
  • To identify possible side effects of ERT.


Current Secondary Outcome:

  • (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 ]
  • 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 ]
  • 4) To identify which of these clinical problems can best predict the outcome of ERT on Fabry disease. [ Time Frame: 2017 ]
  • 5) To identify possible side effects of ERT [ Time Frame: 2017 ]


Original Secondary Outcome:

Information By: Canadian Fabry Research Consortium

Dates:
Date Received: March 30, 2007
Date Started: January 2007
Date Completion: March 2017
Last Updated: February 2, 2016
Last Verified: February 2016