Global Burden and Treatment Trajectiories in Italian Patients With Fabry Disease (GROUND)

Global Burden and Treatment Trajectiories in Italian Patients With Fabry Disease: a Retrospective, Longitudinal and Cross-sectional Study

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 Overview

• Status: Completed
• Conditions: Fabry Disease
• Intervention / Treatment: Other: FD patients

• Study Type: Observational
• Enrollment (Actual): 200

Contacts and Locations

Study Locations

• Italy
  • Arezzo, Italy
    • AUSL Toscana Sud-Est - Ospedale San Donato
  • Firenze, Italy
    • A.O.U. Careggi
  • Monza, Italy
    • U.O.C. Nefrologia ASST Monza - Ospedale San Gerardo
  • Napoli, Italy
    • U.O. di Nefrologia - Dipartimento di Sanità Pubblica Università degli Studi di Napoli "Federico II" NAPOLI
  • Palermo, Italy
    • A.O.U. Policlinico "Giaccone"
  • Rimini, Italy
    • AUSL della Romagna - Ospedale Infermi
  • Roma, Italy
    • Fondazione Policlinico Universitario "Gemelli" IRCCS

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Patients with a confirmed FD diagnosis

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
FD patients	Other: FD patients; Patients with Fabry disease diagnosis

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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;	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.	Baseline

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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)	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.	Baseline
Brief pain inventory score	Uses simple numeric rating scales from 0 (no pain) to 10 (severe pain)	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.	Baseline
Hamilton depression scale	It contains 17 items. A score of 0-7 is considered to be normal while a score of 20 or higher (indicating at least moderate severity)	Baseline
HAQ-disability index	There are 8 sections: dressing, arising, eating, walking, hygiene, reach, grip, and activities. There are 2 or 3 questions for each section. Scoring within each section is from 0 (without any difficulty) to 3 (unable to do).The 8 scores of the 8 sections are summed and divided by 8.	Baseline
SF-36	Covers eight health domains: physical functioning (10 items), bodily pain (2 items), role limitations due to physical health problems (4 items), role limitations due to personal or emotional problems (4 items), emotional well-being (5 items), social functioning (2 items), energy/fatigue (4 items), and general health perceptions (5 items). Scores for each domain range from 0 to 100, with a higher score defining a more favorable health state.	Baseline
Time from first manifestation to diagnosis	Time from first manifestation to diagnosis	Baseline
Patients prescribed to different treatments	Percentage of patients prescribed to different treatment among naïve and switchers groups; determinants of untreated, treated discontinue, treated persisting status.	Baseline

Collaborators and Investigators

• Sponsor: Chiesi Italia
• Investigators: Principal Investigator: Antonio Pisani, MD, Università degli Studi di Napoli "Federico II" NAPOLI; Principal Investigator: Federico Pieruzzi, MD, Ospedale San Gerardo Monza; Principal Investigator: Renzo Mignani, MD, AUSL della Romagna - Ospedale Infermi Rimini; Principal Investigator: Elena Verrecchia, MD, Fondazione Policlinico Universitario "Gemelli" IRCCS ROMA; Principal Investigator: Davide Noto, MD, A.O.U. Policlinico "Giaccone" PALERMO; Principal Investigator: Antonino Tuttolomondo, MD, A.O.U. Policlinico "Giaccone" PALERMO; Principal Investigator: Maurizio Pieroni, MD, AUSL Toscana Sud-Est - Ospedale San Donato AREZZO; Principal Investigator: Iacopo Olivotto, MD, A.O.U. Careggi FIRENZE

Publications and helpful links

Helpful Links

• CSR Synopsis published on the Chiesi Group web-site

Study record dates

Study Major Dates

• Study Start (Actual): June 23, 2021
• Primary Completion (Actual): June 30, 2022
• Study Completion (Actual): June 30, 2022

Study Registration Dates

• First Submitted: May 13, 2021
• First Submitted That Met QC Criteria: June 7, 2021
• First Posted (Actual): June 8, 2021

Study Record Updates

• Last Update Posted (Actual): November 28, 2023
• Last Update Submitted That Met QC Criteria: November 22, 2023
• Last Verified: November 1, 2023

More Information

Terms related to this study

• Keywords: Rare; Burden; Retrospective; Fabry Disease
• Additional Relevant MeSH Terms: Cardiovascular Diseases; Vascular Diseases; Metabolic Diseases; Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Cerebral Small Vessel Diseases; Lipidoses; Lipid Metabolism, Inborn Errors; Fabry Disease
• Other Study ID Numbers: DFIDM-2001

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No