Canadian Fabry Disease Initiative (CFDI) Enzyme Replacement Therapy (ERT) Study
Status:
Recruiting
Trial end date:
0000-00-00
Target enrollment:
Participant gender:
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. 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.