FABry Disease Patient-Reported Outcome-GastroIntestinal (FABPRO-GI): A new Fabry disease-specific gastrointestinal outcomes instrument.

ABSTRACT:

Purpose

Fabry disease is a rare multisystemic disorder caused by functional deficiency of the lysosomal enzyme alpha-galactosidase A. Gastrointestinal (GI) signs and symptoms are among the earliest clinical manifestations in patients with Fabry disease but are often nonspecific, misdiagnosed, and untreated. No instruments have been developed specifically to assess GI signs and symptoms in Fabry disease. The FABry disease Patient-Reported Outcome-GastroIntestinal (FABPRO-GI) was developed to address this unmet need and is intended for use in clinical trials (24-h FABPRO-GI) and real-world settings (7-day FABPRO-GI).

Methods

Findings from a literature review, expert advisory meetings, and patient concept elicitation interviews (CEIs) were summarized into conceptual models. The

SUBMITTER: Shields AL 

PROVIDER: S-EPMC8481178 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature