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

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.

Conditions

• Quality of Life
• Renal Insufficiency
• Cardiac Event

Interventions

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

Sponsors & Collaborators

• Shire

  collaborator INDUSTRY

• Baylor Research Institute

  lead OTHER

Study Design

Allocation

NA

Purpose

OTHER

Masking

NONE

Model

SINGLE_GROUP

Eligibility

Min Age

18 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2018-11-10

Primary Completion

2019-12-13

Completion

2019-12-13

Countries

• United States

Study Locations