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Completed

NCT Number: NCT04002531

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

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.

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Key information

Conditions

Quality of Life Cardiac Event Cardiovascular Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Kidney Diseases Male Urogenital Diseases Renal Insufficiency Urogenital Diseases Urologic Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Baylor University Medical Center

Dallas, Texas, 75246, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

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

Treatment and study plan

General and Neurological examination

Other

Information about your general health, neurological symptoms and current medications with be collected

Other names: MD assessment

Vital signs

Other

Height, weight, blood pressure, heart rate, and respiratory rate and temperature will be measured.

Other names: Blood pressure, heart rate, respiratory rate

12 lead electrocardiogram

Procedure

A non-invasive test that measures the electrical activity of the heart

Other names: EKG, ECG

Echocardiogram

Procedure

A non-invasive sonogram of the heart

Other names: Cardiac echo

Blood draw

Procedure

Blood will be drawn to evaluate general health and renal function (kidney health)

Other names: Blood collection, phlebotomy, lab test

Urine collection

Procedure

Urine will be collection to evaluate renal function (kidney health)

2-hour Holter Monitor

Procedure

A non-invasive test that measures the electrical activity of the heart continuously over 2 hours

Other names: Holter

Brief Pain Inventory questionnaire

Other

A questionnaire about daily pain

Other names: BPI, Pain questionnaire

Quality of Life Questionnaire

Other

A questionnaire about the impact of disease on their activities of daily living and quality of life

Other names: SF 36

Primary outcomes

  1. 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

Secondary outcomes

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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.

Sponsors and collaborators

Lead sponsor

Baylor Research Institute

Other

Collaborators

  • Shire

Registry information

Important dates

Study start
2018
Primary completion
2019
Study completion
2019
First posted
Jun 28, 2019
Registry last updated
Mar 4, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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