Symptoms and Quality of Life in Patients with Fabry Disease: Results from an International Patient Survey.

ABSTRACT:

Introduction

Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A. Symptoms include neuropathic pain and gastrointestinal problems, such as diarrhoea. To inform and support the design of a Phase III clinical trial for a new oral treatment for Fabry disease, this study evaluated patients' experiences of Fabry disease symptoms, the impact of symptoms on their quality of life, and their views on participating in clinical trials.

Methods

An online survey questionnaire was distributed to patients with Fabry disease, through relevant patient organisations. The questionnaire consisted mainly of quantitative, closed questions with pre-defined response options. Fabry-specific pain intensity and its impact on quality of life were rated on

SUBMITTER: Morand O 

PROVIDER: S-EPMC6822826 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature