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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
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| FD patients |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| FD patients | Other | Patients with Fabry disease diagnosis |
|
| 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 |
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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Patients with a confirmed FD diagnosis
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| Name | Affiliation | Role |
|---|---|---|
| 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 |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| AUSL Toscana Sud-Est - Ospedale San Donato | Arezzo | Italy | ||||
| A.O.U. Careggi |
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| Label | URL |
|---|---|
| CSR Synopsis published on the Chiesi Group web-site | View source |
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| ID | Term |
|---|---|
| D000795 | Fabry Disease |
| ID | Term |
|---|---|
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
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| 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 |
| Florence |
| 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 | Naples | Italy |
| A.O.U. Policlinico "Giaccone" | Palermo | Italy |
| AUSL della Romagna - Ospedale Infermi | Rimini | Italy |
| Fondazione Policlinico Universitario "Gemelli" IRCCS | Roma | Italy |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D059345 | Cerebral Small Vessel Diseases |
| D002561 | Cerebrovascular Disorders |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |