Fabry DiseaseNCT00055016
Registry of Fabry Disease - A Multicenter Observational Study
An observational study of Fabry Disease, run by National Institute of Neurological Disorders and Stroke (NINDS) at 2 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Fabry Disease
- How many people
- 100 participants
- Where
- 2 sitesUnited States
- Study dates
- 13 Feb 2003to 3 Mar 2008
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- This registry is open for all patients of all ages, male and female, with a confirmed diagnosis of Fabry disease.
Who cannot join
- 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.
Trial locations and contacts
2 sites in 1 country.
United States2 sites
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
Transkaryotic Therapies, Inc.
Cambridge, Massachusetts, 02139
About this study
Official title: Registry of Fabry Disease: A Multicenter, Longitudinal Observational Study
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:
Read more
- 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 (i.e., 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.
Read the 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 OBJECTIVES/ENDPOINTS:
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 registry/outcome 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 (i.e., 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.
- Conditions
- Fabry Disease
- Keywords
- Lysosomal Disease, Renal Function, Stroke, Cardiac Disease, Natural History, Fabry Disease
- Medical subject headings
- Fabry Disease, Stroke, Heart Diseases
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Feb 2003 (estimated)
- Study start13 Feb 2003
- Study completion3 Mar 2008
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- More trials run by National Institute of Neurological Disorders and Stroke (NINDS)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Enrolment
- 100 participants
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Collaborators
- National Institute of Neurological Disorders and Stroke@@@Shire Human Genetic Therapies (HGT)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00055016
- Sponsor's protocol ID
- 030106
- Other IDs
- 03-N-0106
- Status last verified
- 3 Mar 2008
- First submitted
- 15 Feb 2003
- Last updated
- 2 Jul 2017
- Results posted
- No
Publications
Kaye EM, Kolodny EH, Logigian EL, Ullman MD. Nervous system involvement in Fabry's disease: clinicopathological and biochemical correlation. Ann Neurol. 1988 May;23(5):505-9. doi: 10.1002/ana.410230513.
PubMed 3133979
Study at a glance
From the registry record, last updated by the sponsor on 2 Jul 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Registry of Fabry Disease: A Multicenter, Longitudinal Observational Study
- ClinicalTrials.gov ID
- NCT00055016
- Acronym / sponsor ID
- 030106
- Conditions
- Fabry Disease
- Keywords
- Lysosomal Disease, Renal Function, Stroke, Cardiac Disease, Natural History, Fabry Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 100 participants
- Lead sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)US National Institutes of Health
- Collaborators
- National Institute of Neurological Disorders and Stroke@@@Shire Human Genetic Therapies (HGT)
- Study start
- 13 Feb 2003
- Study completion
- 3 Mar 2008
- First posted
- 17 Feb 2003 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 (i.e., 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 OBJECTIVES/ENDPOINTS:
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 registry/outcome 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 (i.e., 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 design
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (1 listed)
- This registry is open for all patients of all ages, male and female, with a confirmed diagnosis of Fabry disease.
Key exclusion criteria (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Jul 2017.
- Background: PubMed 3133979Kaye EM, Kolodny EH, Logigian EL, Ullman MD. Nervous system involvement in Fabry's disease: clinicopathological and biochemical correlation. Ann Neurol. 1988 May;23(5):505-9. doi: 10.1002/ana.410230513.
Related trials for Fabry Disease
RecruitingPhase 3
A Study to Learn How Well Lucerastat Works and How Safe it is in Untreated Adult Male Participants With Fabry Disease
Fabry Disease
RecruitingObservational study
A Study of Patients With Fabry Disease (US Specific)
Fabry Disease
RecruitingObservational study
A Global Prospective Observational Study of Women With Fabry Disease and Their Infants During Pregnancy and Breastfeeding
Fabry Disease
Active, not recruiting
Evaluation of the Effect of a Low-FODMAP Diet on Gastrointestinal Symptoms and Inflammatory Markers in Fabry Patients
Fabry Disease
RecruitingPhase 3
A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA Variants
Fabry Disease
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fabry Disease, run by National Institute of Neurological Disorders and Stroke (NINDS) at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 2 Jul 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00055016, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Jul 2017.