Registry of Fabry Disease - A Multicenter Observational Study

June 30, 2017 updated by: National Institute of Neurological Disorders and Stroke (NINDS)

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:

  • 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.

Study Overview

Status

Completed

Conditions

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 Type

Observational

Enrollment

100

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • National Institutes of Health Clinical Center, 9000 Rockville Pike
    • Massachusetts
      • Cambridge, Massachusetts, United States, 02139
        • Transkaryotic Therapies, Inc.

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • ADULT
  • OLDER_ADULT
  • CHILD

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

  • INCLUSION CRITERIA:

This registry 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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Institute of Neurological Disorders and Stroke (NINDS)

Collaborators

National Institute of Neurological Disorders and Stroke@@@Shire Human Genetic Therapies (HGT)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

February 13, 2003

Study Completion

March 3, 2008

Study Registration Dates

First Submitted

February 15, 2003

First Submitted That Met QC Criteria

February 14, 2003

First Posted (ESTIMATE)

February 17, 2003

Study Record Updates

Last Update Posted (ACTUAL)

July 2, 2017

Last Update Submitted That Met QC Criteria

June 30, 2017

Last Verified

March 3, 2008

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 030106
  • 03-N-0106

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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