Clinical trial NCT04002531: A One Visit Follow Up of Adults With Fabry Disease Who Started Long-term Enzyme Replacement Therapy As Children
Official title: A One Visit Follow Up of Adults With Fabry Disease Who Started Long-term Enzyme Replacement Therapy As Children
Study type: INTERVENTIONAL
Overall status: UNKNOWN
Phase: NA
Conditions: Quality of Life
Renal Insufficiency
Cardiac Event
Lead sponsor: Baylor Research Institute
Sponsor class: OTHER
Collaborators: name: Shire
First posted: 2019-06-28
Enrollment: 12
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Intervention model description: Specific group of adults with Fabry disease who received Replagal infusions as children
Primary purpose: OTHER

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.

Eligibility criteria: 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.

Primary outcomes:
measure: estimated Glomerular Filtration Rate (eGFR)
timeFrame: Study involves one visit only - assessed Baseline Visit
Secondary outcomes:
measure: Left Ventricular Mass Index
timeFrame: Study involves one visit only - assessed Baseline Visit
measure: Heart rate variability assessment
timeFrame: Study involves one visit only - assessed Baseline Visit
measure: Urine albumin/creatinine ratio
timeFrame: Study involves one visit only - assessed Baseline Visit
measure: Plasma Lyso-Gb3
timeFrame: Study involves one visit only - assessed Baseline Visit
measure: Plasma Gb3 and compared to plasma Gb3 results obtained during participation in study "Replagal Enzyme Replacement Therapy for Children With Fabry Disease" NCT00084084
timeFrame: Study involves one visit only - assessed Baseline Visit
measure: Urine Lyso-Gb3
timeFrame: Study involves one visit only - assessed Baseline Visit
measure: Short-form Brief Pain Inventory (BPI)
timeFrame: Study involves one visit only - assessed Baseline Visit
measure: Qualify of Life - Your Health and Well-being
timeFrame: Study involves one visit only - assessed Baseline Visit
Other outcomes:
Locations:
city: Dallas
country: United States
facility: Baylor University Medical Center
state: Texas
Study officials:
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