Ignite Creation Date:
2024-05-05 @ 11:28 AM
Last Modification Date:
2024-10-26 @ 9:08 AM
Study NCT ID:
NCT00055016
Status:
COMPLETED
Last Update Posted:
2017-07-02
First Post:
2003-02-15
Brief Title:
Registry of Fabry Disease - A Multicenter Observational Study
Sponsor:
National Institute of Neurological Disorders and Stroke NINDS
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Registry of Fabry Disease A Multicenter Longitudinal Observational Study
Status:
COMPLETED
Status Verified Date:
2008-03-03
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:
None
Brief Summary:
The purpose of this study is to compile a registry of patients with Fabry disease an inherited metabolic disorder In this disease an enzyme called a-galactosidase A which normally breaks down a lipid fatty substance called globotriaosylceramide Gb3 is missing or does not function properly As a result Gb3 accumulates causing problems with the kidneys heart nerves and blood vessels It is not known exactly how lipid accumulation causes these problems but in another lipid storage disease called Gaucher disease the illness can be reversed if the accumulated lipid is removed by repeated intravenous into a vein infusions of the deficient enzyme
The Fabry disease registry is a voluntary and anonymous list of patients that includes information about their health and allows doctors to follow changes in their symptoms and test results over time It also allows doctors to compare symptoms between patients who are receiving certain therapies with those who are not receiving therapy The goals of the registry are to
Better understand the natural history of Fabry disease including disease variations within and between affected families
Provide a basis for developing guidelines for disease management
Evaluate how treatment affects the course of disease
Provide high-quality data and analyses that will help to continuously develop better treatments
Patients of all ages with biochemical or genetic evidence of Fabry disease ie individuals who have a deficiency of the enzyme a-galactosidase A or a mutation in the gene that encodes this enzyme or both are eligible for this study This worldwide study will include 100 patients participating in Fabry disease studies at the NIH These patients will come to the NIH Clinical Center only as required for participation their Fabry disease study No additional procedures will be required for the current registry study
NIH patients will take part in the registry study for their lifetime or as long as they are being followed at the NIH for their Fabry disease At their regularly scheduled NIH clinic visits participants will have routine medical procedures and examinations deemed necessary by the doctor The results of blood and urine tests taken at these visits will be entered into the registry database Blood tests will include information on genotype determination of which gene mutation is responsible for the disease a-galactosidase A levels Gb3 levels and creatinine Urine tests results will include creatinine clearance a measure of kidney function and protein evaluation
The Fabry disease registry is a voluntary and anonymous list of patients that includes information about their health and allows doctors to follow changes in their symptoms and test results over time It also allows doctors to compare symptoms between patients who are receiving certain therapies with those who are not receiving therapy The goals of the registry are to
Better understand the natural history of Fabry disease including disease variations within and between affected families
Provide a basis for developing guidelines for disease management
Evaluate how treatment affects the course of disease
Provide high-quality data and analyses that will help to continuously develop better treatments
Patients of all ages with biochemical or genetic evidence of Fabry disease ie individuals who have a deficiency of the enzyme a-galactosidase A or a mutation in the gene that encodes this enzyme or both are eligible for this study This worldwide study will include 100 patients participating in Fabry disease studies at the NIH These patients will come to the NIH Clinical Center only as required for participation their Fabry disease study No additional procedures will be required for the current registry study
NIH patients will take part in the registry study for their lifetime or as long as they are being followed at the NIH for their Fabry disease At their regularly scheduled NIH clinic visits participants will have routine medical procedures and examinations deemed necessary by the doctor The results of blood and urine tests taken at these visits will be entered into the registry database Blood tests will include information on genotype determination of which gene mutation is responsible for the disease a-galactosidase A levels Gb3 levels and creatinine Urine tests results will include creatinine clearance a measure of kidney function and protein evaluation
Detailed Description:
PROTOCOL TITLE Registry of Fabry Disease A Multicenter Longitudinal Observational Study
PROTOCOL IDENTIFIER FOS Fabry Outcome Survey
PHASE OF DEVELOPMENT Post Marketing Outcome Survey Outcome Survey
SURVEY OBJECTIVESENDPOINTS
The primary objectives of this outcome survey are to
enhance the understanding of the natural history of Fabry disease including the intra- and inter-familial variations
provide a basis for the development of management guidelines for Fabry disease
evaluate the impact of therapeutic intervention on the clinical course of Fabry disease
generate data and analyses to enable the continuous improvement of Fabry disease treatment
collect long term safety and efficacy data on patients treated with Replagal enzyme replacement therapy
INCLUSION CRITERIA
This registryoutcome survey is open for all patients of all ages male and female with a confirmed diagnosis of Fabry disease
EXCLUSION CRITERIA
Patients who are unwilling to give informed consent
Patients who are receiving enzyme replacement therapy other than Replagal for Fabry Disease
Patients currently enrolled in an ongoing blinded clinical trial in which the product is considered investigational
NUMBER OF SUBJECTS PLANNED AND DURATION OF SUBJECT PARTICIPATION
There is no predetermined number of patients that must be enrolled into the outcome survey Patients who have been diagnosed biochemically or genetically with Fabry disease that consent to participate will be followed for an undetermined amount of time ie until the sponsor closes the outcome survey or the patient withdraws consent
TREATMENTS ADMINISTERED AND TREATMENT SCHEDULE
Patients consenting to participate in the outcome survey will either be untreated or treated with Replagal ERT It is recommended that patients be followed at increments determined to be necessary by the treating physician It is also recommended that data on all patients be entered into the outcome survey on a bi-annual basis every six 6 months
Patients will not be supplied with Replagal at no charge as a result of participating in the Fabry Outcome Survey FOS Patients will receive Replagal through their participation in ongoing open label clinical trials or compassionate programs Additionally patients may receive commercially available product
SURVEY ASSESSMENT SCHEDULE
It is recommended that patients be followed at clinically relevant intervals determined by their treating physician Data collected is to be entered into the FOS database as soon as possible after physician assessments
SURVEY METHODOLOGY
Observational data will be recorded in the FOS database based on routine clinical evaluations performed by the treating physician
STATISTICAL METHODOLOGY
The statistical analysis of FOS data will be performed by a bio-statistician designated by Shire HGT and in accordance with documented company guidelines and standard operating procedures
PROTOCOL IDENTIFIER FOS Fabry Outcome Survey
PHASE OF DEVELOPMENT Post Marketing Outcome Survey Outcome Survey
SURVEY OBJECTIVESENDPOINTS
The primary objectives of this outcome survey are to
enhance the understanding of the natural history of Fabry disease including the intra- and inter-familial variations
provide a basis for the development of management guidelines for Fabry disease
evaluate the impact of therapeutic intervention on the clinical course of Fabry disease
generate data and analyses to enable the continuous improvement of Fabry disease treatment
collect long term safety and efficacy data on patients treated with Replagal enzyme replacement therapy
INCLUSION CRITERIA
This registryoutcome survey is open for all patients of all ages male and female with a confirmed diagnosis of Fabry disease
EXCLUSION CRITERIA
Patients who are unwilling to give informed consent
Patients who are receiving enzyme replacement therapy other than Replagal for Fabry Disease
Patients currently enrolled in an ongoing blinded clinical trial in which the product is considered investigational
NUMBER OF SUBJECTS PLANNED AND DURATION OF SUBJECT PARTICIPATION
There is no predetermined number of patients that must be enrolled into the outcome survey Patients who have been diagnosed biochemically or genetically with Fabry disease that consent to participate will be followed for an undetermined amount of time ie until the sponsor closes the outcome survey or the patient withdraws consent
TREATMENTS ADMINISTERED AND TREATMENT SCHEDULE
Patients consenting to participate in the outcome survey will either be untreated or treated with Replagal ERT It is recommended that patients be followed at increments determined to be necessary by the treating physician It is also recommended that data on all patients be entered into the outcome survey on a bi-annual basis every six 6 months
Patients will not be supplied with Replagal at no charge as a result of participating in the Fabry Outcome Survey FOS Patients will receive Replagal through their participation in ongoing open label clinical trials or compassionate programs Additionally patients may receive commercially available product
SURVEY ASSESSMENT SCHEDULE
It is recommended that patients be followed at clinically relevant intervals determined by their treating physician Data collected is to be entered into the FOS database as soon as possible after physician assessments
SURVEY METHODOLOGY
Observational data will be recorded in the FOS database based on routine clinical evaluations performed by the treating physician
STATISTICAL METHODOLOGY
The statistical analysis of FOS data will be performed by a bio-statistician designated by Shire HGT and in accordance with documented company guidelines and standard operating procedures
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
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 03-N-0106 | None | None | None |