Global Burden and Treatment Trajectiories in Italian Patients With Fabry Disease

Chiesi Italia200 enrolled

Overview

GROUND study is an Italian, multicenter retrospective longitudinal cohort study with a cross-sectional phase with the aim to quantify the severe clinical burden in terms of severe and fatal outcomes and extension of clinical impairment in the Italian Fabry Disease patients' population

Study Type

OBSERVATIONAL

Enrollment

200

Conditions

Fabry Disease

Interventions

FD patientsOTHER

Patients with Fabry disease diagnosis

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

Inclusion Criteria: 1. Adult patients living or deceased of either sex (age ≥18 years) with a documented FD diagnosis in the last 10 years from the beginning of the study. 2. Patients with at least 3 years of follow-up or early occurrence of severe/fatal outcomes. Also, adult patients who were lost by their care provider or physician and cannot be traced, but for which it is possible to retrieve data for at least 3 years before the last available follow-up visit or from diagnosis to the occurrence of severe/fatal outcomes if earlier, can be included. 3. Written informed consent to undergo in the cross-sectional protocol clinical visit and to retrospectively collect genetic/clinical data. In case of deceased or untraceable patients, the written informed consent is not required to collect retrospective clinical data (excluding genetic data). Exclusion Criteria: * Not applicable

Locations (7)

AUSL Toscana Sud-Est - Ospedale San Donato

Arezzo, Italy

A.O.U. Careggi

Florence, Italy

U.O.C. Nefrologia ASST Monza - Ospedale San Gerardo

Monza, Italy

U.O. di Nefrologia - Dipartimento di Sanità Pubblica Università degli Studi di Napoli "Federico II" NAPOLI

Naples, Italy

Outcomes

Primary Outcomes

Occurrence of severe and fatal clinical outcomes

Occurrence of severe and fatal clinical outcomes derived by event-free survival from birth to last follow-up or cross-sectional visit;

Time frame: Baseline

Comprehensive burden

Comprehensive burden intended as a measure of extension of clinical impairment assessed by median Mainz Severity Score Index (MSSI) at last follow-up or cross-sectional visit.

Time frame: Baseline

Secondary Outcomes

Percentage of patients with disease progression

Percentage of patients with disease progression measured by FAbry STabilization indEX and defined as a change \>20% from the first available FASTEX score to the last follow-up and in the last 2 years until the last follow-up and 2 years before the last follow-up or cross-sectional visit (or when available within 3-1 years before last follow-up)

Time frame: From the first available FASTEX score to baseline

Percentage of patients with disease activity

Percentage of patients with disease activity assessed by the occurrence rate of clinically significant events from diagnosis to last follow-up or cross-sectional visit.

Time frame: Baseline

Brief pain inventory score

Uses simple numeric rating scales from 0 (no pain) to 10 (severe pain)

Time frame: Baseline

Pittsburgh Sleep Quality index

Seven component scores are derived, each scored 0 (no difficulty) to 3 (severe difficulty). The component scores are summed to produce a global score (range 0 to 21). Higher scores indicate worse sleep quality.

Time frame: Baseline

Data from ClinicalTrials.gov

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