Ignite Creation Date:
2024-05-05 @ 5:26 PM
Last Modification Date:
2024-10-26 @ 9:31 AM
Study NCT ID:
NCT00455104
Status:
RECRUITING
Last Update Posted:
2024-02-15
First Post:
2007-03-30
Brief Title:
Canadian Fabry Disease Initiative CFDI National Registry
Sponsor:
Canadian Fabry Research Consortium
Organization:
Canadian Fabry Research Consortium
Study Overview
Official Title:
Canadian Fabry Disease Initiative National Registry Outcomes of Rare Disease Therapeutics and Cardiovascular Risk Factor Modification
Status:
RECRUITING
Status Verified Date:
2024-02
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
CFDI-NR
Brief Summary:
CFDI NATIONAL REGISTRY
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 andor premature death often before the age of 60
Fabry Disease is estimated to affect approximately one out of every 40000 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
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 and other treatments to better document its true clinical outcomes in Canadian people with Fabry disease
The Canadian Fabry Disease Initiative National Registry CFDI-NR is an observational voluntary registry designed to collect outcomes data on Fabry disease from people living in Canada
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 andor premature death often before the age of 60
Fabry Disease is estimated to affect approximately one out of every 40000 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
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 and other treatments to better document its true clinical outcomes in Canadian people with Fabry disease
The Canadian Fabry Disease Initiative National Registry CFDI-NR is an observational voluntary registry designed to collect outcomes data on Fabry disease from people living in Canada
Detailed Description:
CFDI NATIONAL REGISTRY 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 goals of this nation-wide study are as follows
1 To maintain an established national registry which will collect information related to the identification and monitoring of all persons with Fabry disease in Canada
2 To determine clinical outcomes of patients with Fabry disease including those on treatment
3 To determine if urine and plasma Gb3 and globotriasylsphingosine LysoGb3 and their analogues can be biomarkers for Fabry disease and can predict clinical outcomes
Data will be collected at baseline and every 12 months as follows
Medical History
Physical examination
Neurological exam
Electrocardiogram ECG - an electrical tracing of ones heart rhythm
Echocardiogram ultrasound of the heart
Holter monitor
Magnetic Resonance Imaging MRI or CT Scan of the head
Lab tests including alpha-galactosidase levels
Review of current medications
24-hour urine collection or a random spot urine test
Biomarker samples
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 approximately 300000 CDN per year per patient As a result of these issues there will need to be continued and long-term collection of information related to the effectiveness of ERT and other treatments to better document its true clinical outcomes in Canadian people with Fabry disease
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 goals of this nation-wide study are as follows
1 To maintain an established national registry which will collect information related to the identification and monitoring of all persons with Fabry disease in Canada
2 To determine clinical outcomes of patients with Fabry disease including those on treatment
3 To determine if urine and plasma Gb3 and globotriasylsphingosine LysoGb3 and their analogues can be biomarkers for Fabry disease and can predict clinical outcomes
Data will be collected at baseline and every 12 months as follows
Medical History
Physical examination
Neurological exam
Electrocardiogram ECG - an electrical tracing of ones heart rhythm
Echocardiogram ultrasound of the heart
Holter monitor
Magnetic Resonance Imaging MRI or CT Scan of the head
Lab tests including alpha-galactosidase levels
Review of current medications
24-hour urine collection or a random spot urine test
Biomarker samples
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 approximately 300000 CDN per year per patient As a result of these issues there will need to be continued and long-term collection of information related to the effectiveness of ERT and other treatments to better document its true clinical outcomes in Canadian people with Fabry disease
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None