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临床试验/NCT04002531
NCT04002531已完成不适用

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

Baylor Research Institute1 个研究点 分布在 1 个国家目标入组 5 人开始时间: 2018年11月10日最近更新:
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适应症
干预措施

试验速览

阶段
不适用
状态
已完成
入组人数
5
试验地点
1
主要终点
estimated Glomerular Filtration Rate (eGFR)
研究概览研究设计入排标准研究组 & 干预措施结局指标研究者研究点记录与标识符相似试验

研究概览

简要总结

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.

详细描述

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.

研究设计

研究类型
Interventional
分配方式
Na
干预模型
Single Group
主要目的
Other
盲法
None

入排标准

年龄范围
18 Years 至 —（Adult, Older Adult）
性别
All
接受健康志愿者
否

入选标准

  • •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

排除标准

  • •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.

研究组 & 干预措施

Single Visit

Other
  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)

干预措施: General and Neurological examination (Other)

Single Visit

Other
  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)

干预措施: Vital signs (Other)

Single Visit

Other
  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)

干预措施: 12 lead electrocardiogram (Procedure)

Single Visit

Other
  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)

干预措施: Echocardiogram (Procedure)

Single Visit

Other
  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)

干预措施: Blood draw (Procedure)

Single Visit

Other
  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)

干预措施: Urine collection (Procedure)

Single Visit

Other
  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)

干预措施: 2-hour Holter Monitor (Procedure)

Single Visit

Other
  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)

干预措施: Brief Pain Inventory questionnaire (Other)

Single Visit

Other
  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)

干预措施: Quality of Life questionnaire (Other)

结局指标

主要结局

estimated Glomerular Filtration Rate (eGFR)

时间窗: 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

次要结局

  • Plasma Lyso-Gb3(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(Study involves one visit only - assessed Baseline Visit)
  • Short-form Brief Pain Inventory (BPI)(Study involves one visit only - assessed Baseline Visit)
  • Left Ventricular Mass Index(Study involves one visit only - assessed Baseline Visit)
  • Heart rate variability assessment(Study involves one visit only - assessed Baseline Visit)
  • Urine Lyso-Gb3(Study involves one visit only - assessed Baseline Visit)
  • Qualify of Life - Your Health and Well-being(Study involves one visit only - assessed Baseline Visit)
  • Urine albumin/creatinine ratio(Study involves one visit only - assessed Baseline Visit)

研究者

申办方类型
Other
责任方
Sponsor

研究点 (1)

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