Global Burden and Treatment Trajectiories in Italian Patients With Fabry Disease

NCT04916977 | Completed

• 1 other identifier: DFIDM-2001
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 7

Brief Summary

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

Conditions

Fabry Disease

Keywords

Fabry Disease; Rare; Retrospective; Burden

Outcome Measures

Primary Outcomes (2)

• 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 Outcomes (9)

• Percentage of patients with disease progression

  From the first available FASTEX score to baseline

• Percentage of patients with disease activity

  Baseline

• Brief pain inventory score

  Baseline

• Pittsburgh Sleep Quality index

  Baseline

• Hamilton depression scale

  Baseline

Study Arms (1)

FD patients

Other: FD patients

Interventions

FD patients OTHER

Patients with Fabry disease diagnosis

FD patients

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients with a confirmed FD diagnosis

You may qualify if:

• 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.
• 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.
• 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).

You may not qualify if:

• Not applicable

Sponsors & Collaborators

• Chiesi Italia: lead

Study Sites (7)

AUSL Toscana Sud-Est - Ospedale San Donato

Arezzo, Italy

Location

A.O.U. Careggi

Florence, Italy

Location

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

Monza, Italy

Location

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

Napoli, Italy

Location

A.O.U. Policlinico "Giaccone"

Palermo, Italy

Location

AUSL della Romagna - Ospedale Infermi

Rimini, Italy

Location

Fondazione Policlinico Universitario "Gemelli" IRCCS

Roma, Italy

Location

Related Links

• CSR Synopsis published on the Chiesi Group web-site

MeSH Terms

Conditions

Fabry Disease

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• 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

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 13, 2021
• First Posted: June 8, 2021
• Study Start: June 23, 2021
• Primary Completion: June 30, 2022
• Study Completion: June 30, 2022
• Last Updated: November 28, 2023

Record last verified: 2023-11

Data Sharing

• IPD Sharing: Will not share

Locations

IT (7)