NCT04002531

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

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 5 (actual)
• Sponsor: Baylor Research Institute · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Quality of Life
• Renal Insufficiency
• Cardiac Event

Interventions

Type	Name	Description
OTHER	General and Neurological examination	Information about your general health, neurological symptoms and current medications with be collected
OTHER	Vital signs	Height, weight, blood pressure, heart rate, and respiratory rate and temperature will be measured.
PROCEDURE	12 lead electrocardiogram	A non-invasive test that measures the electrical activity of the heart
PROCEDURE	Echocardiogram	A non-invasive sonogram of the heart
PROCEDURE	Blood draw	Blood will be drawn to evaluate general health and renal function (kidney health)
PROCEDURE	Urine collection	Urine will be collection to evaluate renal function (kidney health)
PROCEDURE	2-hour Holter Monitor	A non-invasive test that measures the electrical activity of the heart continuously over 2 hours
OTHER	Brief Pain Inventory questionnaire	A questionnaire about daily pain
OTHER	Quality of Life questionnaire	A questionnaire about the impact of disease on their activities of daily living and quality of life

Timeline

• Start date: 2018-11-10
• Primary completion: 2019-12-13
• Completion: 2019-12-13
• First posted: 2019-06-28
• Last updated: 2026-03-04

Locations

1 site across 1 country: United States