Global Burden and Treatment Trajectiories in Italian Patients With Fabry Disease

Study Overview
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Brief Summary
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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

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

Conditions
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Fabry Disease

Intervention / Treatment
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* Other: FD patients


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| FD patients<br> | Other: FD patients<br>* Patients with Fabry disease diagnosis<br>|

What is the study measuring?
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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 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Fabry Disease, Rare, Retrospective, Burden