Back to resultsA One Visit Follow Up of Adults With Fabry Disease Who Started Long-term Enzyme Replacement Therapy As Children
Primary Purpose
Quality of Life, Renal Insufficiency, Cardiac Event
Status
Unknown status
Phase
Not Applicable
Locations
United States
Study Type
Interventional
Intervention
General and Neurological examination
Vital signs
12 lead electrocardiogram
Echocardiogram
Blood draw
Urine collection
2-hour Holter Monitor
Brief Pain Inventory questionnaire
Quality of Life questionnaire
Sponsored by
About this trial
This is an interventional other trial for Quality of Life
Eligibility Criteria
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.
Sites / Locations
- Baylor University Medical Center
Arms of the Study
Arm 1
Arm Type
Other
Arm Label
Single Visit
Arm Description
General and neurological examination Vital signs including height, weight, blood pressure, pulse, temperature 12 lead ECG 2 hour Holter monitor for heart rate variability Echocardiogram Renal function will be assessed by the eGFR. The eGFR will be calculated from serum creatinine using CKD-EPI equation. CBC with differential Complete metabolic panel Urinalysis Urine Albumin/creatinine ratio. Urine and plasma samples for biomarkers (Gb3, lyso-Gb3) that will be stored in -80 freezer and assayed in our lab. Brief Pain Inventory questionnaire. Quality of Life Questionnaires (SF36)
Outcomes
Primary Outcome Measures
estimated Glomerular Filtration Rate (eGFR)
Change in eGFR since previous participation in study "Replagal Enzyme Replacement Therapy for Children With Fabry Disease" - NCT00084084
Secondary Outcome Measures
Left Ventricular Mass Index
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
Heart rate variability assessment
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
Urine albumin/creatinine ratio
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
Plasma Lyso-Gb3
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
Plasma Gb3 and compared to plasma Gb3 results obtained during participation in study "Replagal Enzyme Replacement Therapy for Children With Fabry Disease" NCT00084084
Biomarker of disease
Urine Lyso-Gb3
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
Short-form Brief Pain Inventory (BPI)
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
Qualify of Life - Your Health and Well-being
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.
Full Information
NCT ID
NCT04002531
First Posted
March 25, 2019
Last Updated
November 20, 2019
Sponsor
Baylor Research Institute
Collaborators
Shire
1. Study Identification
Unique Protocol Identification Number
NCT04002531
Brief Title
A One Visit Follow Up of Adults With Fabry Disease Who Started Long-term Enzyme Replacement Therapy As Children
Official Title
A One Visit Follow Up of Adults With Fabry Disease Who Started Long-term Enzyme Replacement Therapy As Children
Study Type
Interventional
2. Study Status
Record Verification Date
March 2019
Overall Recruitment Status
Unknown status
Study Start Date
November 10, 2018 (Actual)
Primary Completion Date
December 31, 2019 (Anticipated)
Study Completion Date
December 31, 2019 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Baylor Research Institute
Collaborators
Shire
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No
5. Study Description
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.
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Quality of Life, Renal Insufficiency, Cardiac Event
7. Study Design
Primary Purpose
Other
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Model Description
Specific group of adults with Fabry disease who received Replagal infusions as children
Masking
None (Open Label)
Allocation
N/A
Enrollment
12 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
Single Visit
Arm Type
Other
Arm Description
General and neurological examination
Vital signs including height, weight, blood pressure, pulse, temperature
12 lead ECG
2 hour Holter monitor for heart rate variability
Echocardiogram
Renal function will be assessed by the eGFR. The eGFR will be calculated from serum creatinine using CKD-EPI equation.
CBC with differential
Complete metabolic panel
Urinalysis
Urine Albumin/creatinine ratio.
Urine and plasma samples for biomarkers (Gb3, lyso-Gb3) that will be stored in -80 freezer and assayed in our lab.
Brief Pain Inventory questionnaire.
Quality of Life Questionnaires (SF36)
Intervention Type
Other
Intervention Name(s)
General and Neurological examination
Other Intervention Name(s)
MD assessment
Intervention Description
Information about your general health, neurological symptoms and current medications with be collected
Intervention Type
Other
Intervention Name(s)
Vital signs
Other Intervention Name(s)
Blood pressure, heart rate, respiratory rate
Intervention Description
Height, weight, blood pressure, heart rate, and respiratory rate and temperature will be measured.
Intervention Type
Procedure
Intervention Name(s)
12 lead electrocardiogram
Other Intervention Name(s)
EKG, ECG
Intervention Description
A non-invasive test that measures the electrical activity of the heart
Intervention Type
Procedure
Intervention Name(s)
Echocardiogram
Other Intervention Name(s)
Cardiac echo
Intervention Description
A non-invasive sonogram of the heart
Intervention Type
Procedure
Intervention Name(s)
Blood draw
Other Intervention Name(s)
Blood collection, phlebotomy, lab test
Intervention Description
Blood will be drawn to evaluate general health and renal function (kidney health)
Intervention Type
Procedure
Intervention Name(s)
Urine collection
Intervention Description
Urine will be collection to evaluate renal function (kidney health)
Intervention Type
Procedure
Intervention Name(s)
2-hour Holter Monitor
Other Intervention Name(s)
Holter
Intervention Description
A non-invasive test that measures the electrical activity of the heart continuously over 2 hours
Intervention Type
Other
Intervention Name(s)
Brief Pain Inventory questionnaire
Other Intervention Name(s)
BPI, Pain questionnaire
Intervention Description
A questionnaire about daily pain
Intervention Type
Other
Intervention Name(s)
Quality of Life questionnaire
Other Intervention Name(s)
SF 36
Intervention Description
A questionnaire about the impact of disease on their activities of daily living and quality of life
Primary Outcome Measure Information:
Title
estimated Glomerular Filtration Rate (eGFR)
Description
Change in eGFR since previous participation in study "Replagal Enzyme Replacement Therapy for Children With Fabry Disease" - NCT00084084
Time Frame
Study involves one visit only - assessed Baseline Visit
Secondary Outcome Measure Information:
Title
Left Ventricular Mass Index
Description
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
Time Frame
Study involves one visit only - assessed Baseline Visit
Title
Heart rate variability assessment
Description
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
Time Frame
Study involves one visit only - assessed Baseline Visit
Title
Urine albumin/creatinine ratio
Description
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
Time Frame
Study involves one visit only - assessed Baseline Visit
Title
Plasma Lyso-Gb3
Description
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
Time Frame
Study involves one visit only - assessed Baseline Visit
Title
Plasma Gb3 and compared to plasma Gb3 results obtained during participation in study "Replagal Enzyme Replacement Therapy for Children With Fabry Disease" NCT00084084
Description
Biomarker of disease
Time Frame
Study involves one visit only - assessed Baseline Visit
Title
Urine Lyso-Gb3
Description
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
Time Frame
Study involves one visit only - assessed Baseline Visit
Title
Short-form Brief Pain Inventory (BPI)
Description
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
Time Frame
Study involves one visit only - assessed Baseline Visit
Title
Qualify of Life - Your Health and Well-being
Description
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.
Time Frame
Study involves one visit only - assessed Baseline Visit
10. Eligibility
Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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.
Facility Information:
Facility Name
Baylor University Medical Center
City
Dallas
State/Province
Texas
ZIP/Postal Code
75246
Country
United States
12. IPD Sharing Statement
Plan to Share IPD
No
Citations:
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19318041
Citation
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PubMed Identifier
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Citation
Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, Sorensen SA, Wilcox WR, Desnick RJ. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant. 2009 Jul;24(7):2102-11. doi: 10.1093/ndt/gfp031. Epub 2009 Feb 13.
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Citation
Kwon JM, Matern D, Kurtzberg J, Wrabetz L, Gelb MH, Wenger DA, Ficicioglu C, Waldman AT, Burton BK, Hopkins PV, Orsini JJ. Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease. Orphanet J Rare Dis. 2018 Feb 1;13(1):30. doi: 10.1186/s13023-018-0766-x.
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Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999 Jan 20;281(3):249-54. doi: 10.1001/jama.281.3.249.
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Schiffmann R, Hughes DA, Linthorst GE, Ortiz A, Svarstad E, Warnock DG, West ML, Wanner C; Conference Participants. Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. Kidney Int. 2017 Feb;91(2):284-293. doi: 10.1016/j.kint.2016.10.004. Epub 2016 Dec 18.
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Links:
URL
https://www.nature.com/articles/gim201655
Description
Is it Fabry Disease?
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A One Visit Follow Up of Adults With Fabry Disease Who Started Long-term Enzyme Replacement Therapy As Children
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