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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04002531
Recruitment Status : Enrolling by invitation
First Posted : June 28, 2019
Last Update Posted : November 22, 2019
Sponsor:
Collaborator:
Shire
Information provided by (Responsible Party):
Baylor Research Institute

Brief Summary:
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.

Condition or disease Intervention/treatment Phase
Quality of Life Renal Insufficiency Cardiac Event Other: General and Neurological examination Other: Vital signs Procedure: 12 lead electrocardiogram Procedure: Echocardiogram Procedure: Blood draw Procedure: Urine collection Procedure: 2-hour Holter Monitor Other: Brief Pain Inventory questionnaire Other: Quality of Life questionnaire Not Applicable

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.

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 12 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Intervention Model Description: Specific group of adults with Fabry disease who received Replagal infusions as children
Masking: None (Open Label)
Primary Purpose: Other
Official Title: A One Visit Follow Up of Adults With Fabry Disease Who Started Long-term Enzyme Replacement Therapy As Children
Actual Study Start Date : November 10, 2018
Estimated Primary Completion Date : December 31, 2019
Estimated Study Completion Date : December 31, 2019

Resource links provided by the National Library of Medicine


Arm Intervention/treatment
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 Name: MD assessment

Other: Vital signs
Height, weight, blood pressure, heart rate, and respiratory rate and temperature will be measured.
Other Name: Blood pressure, heart rate, respiratory rate

Procedure: 12 lead electrocardiogram
A non-invasive test that measures the electrical activity of the heart
Other Name: EKG, ECG

Procedure: Echocardiogram
A non-invasive sonogram of the heart
Other Name: Cardiac echo

Procedure: Blood draw
Blood will be drawn to evaluate general health and renal function (kidney health)
Other Name: 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 Name: Holter

Other: Brief Pain Inventory questionnaire
A questionnaire about daily pain
Other Name: 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 Name: SF 36




Primary Outcome Measures :
  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 Outcome Measures :
  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.



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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04002531


Locations
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United States, Texas
Baylor University Medical Center
Dallas, Texas, United States, 75246
Sponsors and Collaborators
Baylor Research Institute
Shire
Additional Information:
Publications:

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Responsible Party: Baylor Research Institute
ClinicalTrials.gov Identifier: NCT04002531    
Other Study ID Numbers: 018-706
First Posted: June 28, 2019    Key Record Dates
Last Update Posted: November 22, 2019
Last Verified: March 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Fabry Disease
Renal Insufficiency
Kidney Diseases
Urologic Diseases
Sphingolipidoses
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Vascular Diseases
Cardiovascular Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders