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

Baylor Scott and White Health (BSWH)

Status: Unknown

Conditions: Quality of Life; Renal Insufficiency; Cardiac Event

Treatments: Procedure: Blood draw; Other: General and Neurological examination; Other: Brief Pain Inventory questionnaire; Procedure: 2-hour Holter Monitor; Procedure: Urine collection; Other: Vital signs; Procedure: Echocardiogram; Procedure: 12 lead electrocardiogram; Other: Quality of Life questionnaire

Study type: Interventional

Funder types: Other; Industry

Identifiers

NCT04002531

018-706

Details and patient eligibility

About

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.

Full 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.

Enrollment: 12 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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.

Trial design

Primary purpose: Other

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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12 participants in 1 patient group

Single Visit

Other group

Description:

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)

Treatment:

Other: Quality of Life questionnaire

Procedure: Urine collection

Procedure: 12 lead electrocardiogram

Procedure: Echocardiogram

Other: Vital signs

Procedure: 2-hour Holter Monitor

Other: Brief Pain Inventory questionnaire

Other: General and Neurological examination

Procedure: Blood draw