A One Visit Follow Up of Adults With Fabry Disease Who Started Long-term Enzyme Replacement Therapy As Children
概览
- 阶段
- 不适用
- 干预措施
- General and Neurological examination
- 疾病 / 适应症
- Quality of Life
- 发起方
- Baylor Research Institute
- 入组人数
- 5
- 试验地点
- 1
- 主要终点
- estimated Glomerular Filtration Rate (eGFR)
- 状态
- 已完成
- 最后更新
- 上个月
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.
研究者
入排标准
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
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
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)
干预措施: Vital signs
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)
干预措施: 12 lead electrocardiogram
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)
干预措施: Echocardiogram
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)
干预措施: Blood draw
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)
干预措施: Urine collection
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)
干预措施: 2-hour Holter Monitor
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)
干预措施: Brief Pain Inventory questionnaire
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)
干预措施: Quality of Life questionnaire
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)