GROUND: Global Burden and Treatment Trajectiories in Italian Patients With Fabry Disease
Study Details
Study Description
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
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| FD patients
|
Other: FD patients
Patients with Fabry disease diagnosis
|
Outcome Measures
Primary Outcome Measures
- Occurrence of severe and fatal clinical outcomes [Baseline]
Occurrence of severe and fatal clinical outcomes derived by event-free survival from birth to last follow-up or cross-sectional visit;
- Comprehensive burden [Baseline]
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.
Secondary Outcome Measures
- Percentage of patients with disease progression [From the first available FASTEX score to baseline]
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)
- Percentage of patients with disease activity [Baseline]
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.
- Brief pain inventory score [Baseline]
Uses simple numeric rating scales from 0 (no pain) to 10 (severe pain)
- Pittsburgh Sleep Quality index [Baseline]
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.
- Hamilton depression scale [Baseline]
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)
- HAQ-disability index [Baseline]
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.
- SF-36 [Baseline]
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.
- Time from first manifestation to diagnosis [Baseline]
Time from first manifestation to diagnosis
- Patients prescribed to different treatments [Baseline]
Percentage of patients prescribed to different treatment among naïve and switchers groups; determinants of untreated, treated discontinue, treated persisting status.
Eligibility Criteria
Criteria
Inclusion Criteria:
-
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).
Exclusion Criteria:
- Not applicable
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | AUSL Toscana Sud-Est - Ospedale San Donato | Arezzo | Italy | ||
| 2 | A.O.U. Careggi | Firenze | Italy | ||
| 3 | U.O.C. Nefrologia ASST Monza - Ospedale San Gerardo | Monza | Italy | ||
| 4 | U.O. di Nefrologia - Dipartimento di Sanità Pubblica Università degli Studi di Napoli "Federico II" NAPOLI | Napoli | Italy | ||
| 5 | A.O.U. Policlinico "Giaccone" | Palermo | Italy | ||
| 6 | AUSL della Romagna - Ospedale Infermi | Rimini | Italy | ||
| 7 | Fondazione Policlinico Universitario "Gemelli" IRCCS | Roma | Italy |
Sponsors and Collaborators
- 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
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- DFIDM-2001