A One Visit Follow Up of Adults With Fabry Disease Who Started Long-term Enzyme Replacement Therapy As Children
- Conditions
- Renal InsufficiencyCardiac EventQuality of Life
- Interventions
- Other: General and Neurological examinationOther: Vital signsProcedure: 12 lead electrocardiogramProcedure: EchocardiogramProcedure: Blood drawProcedure: Urine collectionProcedure: 2-hour Holter MonitorOther: Brief Pain Inventory questionnaireOther: Quality of Life questionnaire
- Registration Number
- NCT04002531
- Lead Sponsor
- 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.
- 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.
Recruitment & Eligibility
- Status
- UNKNOWN
- Sex
- All
- Target Recruitment
- 12
- 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
- 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.
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Arm && Interventions
Group Intervention Description Single Visit General and Neurological examination 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) Single Visit Vital signs 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) Single Visit Echocardiogram 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) Single Visit Urine collection 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) Single Visit Brief Pain Inventory questionnaire 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) Single Visit 12 lead electrocardiogram 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) Single Visit Blood draw 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) Single Visit 2-hour Holter Monitor 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) Single Visit Quality of Life questionnaire 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)
- Primary Outcome Measures
Name Time Method estimated Glomerular Filtration Rate (eGFR) 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
Name Time Method Left Ventricular Mass Index 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
Plasma Lyso-Gb3 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
Plasma Gb3 and compared to plasma 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 Biomarker of disease
Short-form Brief Pain Inventory (BPI) 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
Heart rate variability assessment 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
Urine Lyso-Gb3 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
Qualify of Life - Your Health and Well-being 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.
Urine albumin/creatinine ratio 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
Trial Locations
- Locations (1)
Baylor University Medical Center
🇺🇸Dallas, Texas, United States