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

Baylor Research Institute5 enrolled

Overview

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.

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.

Study Type

INTERVENTIONAL

Allocation

Purpose

OTHER

Masking

NONE

Enrollment

Conditions

Quality of Life Renal Insufficiency Cardiac Event

Interventions

General and Neurological examinationOTHER

Information about your general health, neurological symptoms and current medications with be collected

Vital signsOTHER

Height, weight, blood pressure, heart rate, and respiratory rate and temperature will be measured.

12 lead electrocardiogramPROCEDURE

A non-invasive test that measures the electrical activity of the heart

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

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.

Locations (1)

Baylor University Medical Center

Dallas, Texas, United States

Outcomes

Primary Outcomes

estimated Glomerular Filtration Rate (eGFR)

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 Outcomes

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

Time frame: Study involves one visit only - assessed Baseline Visit

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

Time frame: Study involves one visit only - assessed Baseline Visit

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

Time frame: Study involves one visit only - assessed Baseline Visit

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

Time frame: 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

Biomarker of disease

Data from ClinicalTrials.gov

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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.

Time frame: Study involves one visit only - assessed Baseline Visit