A One Visit Follow Up of Adults With Fabry Disease Who Started Long-term Enzyme Replacement Therapy As Children

March 3, 2026 updated by: Baylor Research Institute
The objective of this study is to obtain follow up data on a cohort of well-studied patients with Fabry disease who have been on ERT since childhood for a total of about 15 years.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Completed

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

Detailed Description

The long-term effect of initiating ERT in childhood is unknown. Prospective studies of Children with Fabry disease on 0.2 mg/kg agalsidase alfa every other week were performed. The patients were 7-17 years of age at initial study enrollment. The first open-label protocol was TKT023, a 6 months study (August 12, 2002-October 20, 2004) that was followed by an extension study TKT029 (June 10, 2004-June 15, 2011; ClinicalTrials.gov identifier NCT00084084). Since completing TKT029, all US patients were switched to commercial agalsidase beta. Therefore, these patients have now been treated for about 15 years.This study involves a one-visit follow up on these patients using the same protocol-driven studies as were used in TKT029. The long-term follow up data gathered will consist of a rare description of the disease profile in patients who were treated with ERT since childhood.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Interventional

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
5

Phase

Phase

The stage of a clinical trial studying a drug or biological product, based on definitions developed by the U.S. Food and Drug Administration (FDA). The phase is based on the study's objective, the number of participants, and other characteristics. There are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. Not Applicable is used to describe trials without FDA-defined phases, including trials of devices or behavioral interventions.
  • Not Applicable

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
    • Texas
      • Dallas, Texas, United States, 75246
        • Baylor University Medical Center

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

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Description

Inclusion Criteria:

  1. Patients who participated in TKT029 and who are willing and able to come to Dallas for 1 visit for standard of care testing.
  2. Sign the protocol informed consent form
  3. Have been on continuous commercial ERT since TKT029 has ended

Exclusion Criteria:

  1. Patients who are unable to understand the nature, scope, and possible consequences of the study.
  2. Patient does not give his written informed consent to participate in this study
  3. Patient is unable to comply with the protocol, e.g., uncooperative with protocol schedule, refusal to agree to all of the study procedures.
  4. Patient has been off ERT for an extended period of time as assessed by the investigator.

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?

Design Details

  • Primary Purpose: Other
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm

Participant Group / Arm

A group or subgroup of participants in a clinical trial that receives a specific intervention/treatment, or no intervention, according to the trial's protocol.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
Other: Single Visit
  1. General and neurological examination
  2. Vital signs including height, weight, blood pressure, pulse, temperature
  3. 12 lead ECG
  4. 2 hour Holter monitor for heart rate variability
  5. Echocardiogram
  6. Renal function will be assessed by the eGFR. The eGFR will be calculated from serum creatinine using CKD-EPI equation.
  7. CBC with differential
  8. Complete metabolic panel
  9. Urinalysis
  10. Urine Albumin/creatinine ratio.
  11. Urine and plasma samples for biomarkers (Gb3, lyso-Gb3) that will be stored in -80 freezer and assayed in our lab.
  12. Brief Pain Inventory questionnaire.
  13. Quality of Life Questionnaires (SF36)
Other: General and Neurological examination
Information about your general health, neurological symptoms and current medications with be collected
Other Names:
  • MD assessment
Other: Vital signs
Height, weight, blood pressure, heart rate, and respiratory rate and temperature will be measured.
Other Names:
  • Blood pressure, heart rate, respiratory rate
Procedure: 12 lead electrocardiogram
A non-invasive test that measures the electrical activity of the heart
Other Names:
  • EKG, ECG
Procedure: Echocardiogram
A non-invasive sonogram of the heart
Other Names:
  • Cardiac echo
Procedure: Blood draw
Blood will be drawn to evaluate general health and renal function (kidney health)
Other Names:
  • Blood collection, phlebotomy, lab test
Procedure: Urine collection
Urine will be collection to evaluate renal function (kidney health)
Procedure: 2-hour Holter Monitor
A non-invasive test that measures the electrical activity of the heart continuously over 2 hours
Other Names:
  • Holter
Other: Brief Pain Inventory questionnaire
A questionnaire about daily pain
Other Names:
  • BPI, Pain questionnaire
Other: Quality of Life questionnaire
A questionnaire about the impact of disease on their activities of daily living and quality of life
Other Names:
  • SF 36

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
estimated Glomerular Filtration Rate (eGFR)
Time Frame: Study involves one visit only - assessed Baseline Visit
Change in eGFR since previous participation in study "Replagal Enzyme Replacement Therapy for Children With Fabry Disease" - NCT00084084
Study involves one visit only - assessed Baseline Visit

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Left Ventricular Mass Index
Time Frame: Study involves one visit only - assessed Baseline Visit
LVMI measured in g/m2 by echocardiogram and compared to LVMI results obtained during participation in study "Replagal Enzyme Replacement Therapy for Children With Fabry Disease" NCT00084084
Study involves one visit only - assessed Baseline Visit
Heart rate variability assessment
Time Frame: Study involves one visit only - assessed Baseline Visit
2 hour holter monitor and compared to holter monitor results obtained during participation in study "Replagal Enzyme Replacement Therapy for Children With Fabry Disease" NCT00084084
Study involves one visit only - assessed Baseline Visit
Urine albumin/creatinine ratio
Time Frame: Study involves one visit only - assessed Baseline Visit
Biomarker of renal function and compared to urine albumin/creatinine ratios obtained during participation in study "Replagal Enzyme Replacement Therapy for Children With Fabry Disease" NCT00084084
Study involves one visit only - assessed Baseline Visit
Plasma Lyso-Gb3
Time Frame: Study involves one visit only - assessed Baseline Visit
Biomarker of disease and compared to plasma Lyso-Gb3 results obtained during participation in study "Replagal Enzyme Replacement Therapy for Children With Fabry Disease" NCT00084084
Study involves one visit only - assessed Baseline Visit
Plasma Gb3 and compared to plasma Gb3 results obtained during participation in study "Replagal Enzyme Replacement Therapy for Children With Fabry Disease" NCT00084084
Time Frame: Study involves one visit only - assessed Baseline Visit
Biomarker of disease
Study involves one visit only - assessed Baseline Visit
Urine Lyso-Gb3
Time Frame: Study involves one visit only - assessed Baseline Visit
Biomarker of disease and compared to urine Lyso-Gb3 results obtained during participation in study "Replagal Enzyme Replacement Therapy for Children With Fabry Disease" NCT00084084
Study involves one visit only - assessed Baseline Visit
Short-form Brief Pain Inventory (BPI)
Time Frame: Study involves one visit only - assessed Baseline Visit
Questionnaire designed to assess current level of pain from 0-10. 0 reflects no pain and 10 being the worst possible pain. Results will be compared to pediatric pain assessments obtained during participation in study "Replagal Enzyme Replacement Therapy for Children With Fabry Disease" NCT00084084
Study involves one visit only - assessed Baseline Visit
Qualify of Life - Your Health and Well-being
Time Frame: Study involves one visit only - assessed Baseline Visit
Self-evaluation that describes current physical and emotional health. Questionnaire asks User to rate how Fabry disease impacts User's overall physical and emotional well-being. Questionnaire uses multiple scales to rate User's ability to perform activities of daily life, identify changes in overall health, and identify how changes in physical health and disease has impacted User's emotional well-being. User will be asked to answer multiple questions using the following scales: Poor/Fair/Good/Very good/excellent, Much better than 1 week ago/Somewhat better than 1 week ago/The same as 1 week ago/Somewhat worse than 1 week ago/Much worse than 1 week ago, Limited a lot/Limited a little/Not limited at all, All of the time/Most of the time/Some of the time/A little of the time/None of the time, Not at all/Slightly/Moderately/Quite a bit/Extremely, None/Very mild/Mild/Moderate/Severe/Very severe, Definitely true/Mostly true/Don't know/Mostly false/Definitely false.
Study involves one visit only - assessed Baseline Visit

Collaborators and Investigators

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

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Baylor Research Institute

Collaborators

Collaborators

An organization other than the sponsor that provides support for a clinical study. This support may include activities related to funding, design, implementation, data analysis, or reporting.
Shire

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

Helpful Links

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 (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
November 10, 2018

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
December 13, 2019

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
December 13, 2019

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
March 25, 2019

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
June 27, 2019

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
June 28, 2019

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
March 4, 2026

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
March 3, 2026

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
July 1, 2020

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • 018-706

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

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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