Global Burden and Treatment Trajectiories in Italian Patients With Fabry Disease

Fabry Disease Clinical Trial

— GROUND  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04916977
• Other study ID #: DFIDM-2001
• Status: Completed
• Start date: June 23, 2021
• Est. completion date: June 30, 2022

Study information

• Verified date: November 2023
• Source: Chiesi Farmaceutici S.p.A.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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

Recruitment information / eligibility

• Status: Completed
• Enrollment: 200
• Est. completion date: June 30, 2022
• Est. primary completion date: June 30, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Fabry Disease

Intervention

Other:
• FD patients
Patients with Fabry disease diagnosis

Locations

Country	Name	City	State
Italy	AUSL Toscana Sud-Est - Ospedale San Donato	Arezzo
Italy	A.O.U. Careggi	Firenze
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	Napoli
Italy	A.O.U. Policlinico "Giaccone"	Palermo
Italy	AUSL della Romagna - Ospedale Infermi	Rimini
Italy	Fondazione Policlinico Universitario "Gemelli" IRCCS	Roma

Sponsors (1)

Lead Sponsor	Collaborator
Chiesi Italia

Country where clinical trial is conducted

Italy, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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	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
Secondary	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
Secondary	Brief pain inventory score	Uses simple numeric rating scales from 0 (no pain) to 10 (severe pain)	Baseline
Secondary	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
Secondary	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
Secondary	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
Secondary	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
Secondary	Time from first manifestation to diagnosis	Time from first manifestation to diagnosis	Baseline
Secondary	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

External Links

•   CSR Synopsis published on the Chiesi Group web-site