Cardiac Event, Quality of Life, Renal Insufficiency
Conditions
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.
Interventions
OTHERGeneral and Neurological examination
Information about your general health, neurological symptoms and current medications with be collected
OTHERVital signs
Height, weight, blood pressure, heart rate, and respiratory rate and temperature will be measured.
PROCEDURE12 lead electrocardiogram
A non-invasive test that measures the electrical activity of the heart
PROCEDUREEchocardiogram
A non-invasive sonogram of the heart
PROCEDUREBlood draw
Blood will be drawn to evaluate general health and renal function (kidney health)
PROCEDUREUrine collection
Urine will be collection to evaluate renal function (kidney health)
PROCEDURE2-hour Holter Monitor
A non-invasive test that measures the electrical activity of the heart continuously over 2 hours
OTHERBrief Pain Inventory questionnaire
A questionnaire about daily pain
OTHERQuality of Life questionnaire
A questionnaire about the impact of disease on their activities of daily living and quality of life
Sponsors
Baylor Research Institute
Shire
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
OTHER
Masking
NONE
Intervention model description
Specific group of adults with Fabry disease who received Replagal infusions as children
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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 |
| 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 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 |
| 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 |
| 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. |
Countries
United States
Outcome results
None listed