Clinical trial NCT04916977: Global Burden and Treatment Trajectiories in Italian Patients With Fabry Disease
Official title: Global Burden and Treatment Trajectiories in Italian Patients With Fabry Disease: a Retrospective, Longitudinal and Cross-sectional Study
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Fabry Disease
Keywords: Fabry Disease
Rare
Retrospective
Burden
Lead sponsor: Chiesi Farmaceutici S.p.A.
Sponsor class: INDUSTRY
First posted: 2021-06-08
Enrollment: 200
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Patients with a confirmed FD diagnosis

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


Eligibility criteria: 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

Primary outcomes:
measure: Occurrence of severe and fatal clinical outcomes
timeFrame: Baseline
measure: Comprehensive burden
timeFrame: Baseline
Secondary outcomes:
measure: Percentage of patients with disease progression
timeFrame: From the first available FASTEX score to baseline
measure: Percentage of patients with disease activity
timeFrame: Baseline
measure: Brief pain inventory score
timeFrame: Baseline
measure: Pittsburgh Sleep Quality index
timeFrame: Baseline
measure: Hamilton depression scale
timeFrame: Baseline
measure: HAQ-disability index
timeFrame: Baseline
measure: SF-36
timeFrame: Baseline
measure: Time from first manifestation to diagnosis
timeFrame: Baseline
measure: Patients prescribed to different treatments
timeFrame: Baseline
Other outcomes:
Locations:
city: Arezzo
country: Italy
facility: AUSL Toscana Sud-Est - Ospedale San Donato
city: Firenze
country: Italy
facility: A.O.U. Careggi
city: Monza
country: Italy
facility: U.O.C. Nefrologia ASST Monza - Ospedale San Gerardo
city: Napoli
country: Italy
facility: U.O. di Nefrologia - Dipartimento di Sanità Pubblica Università degli Studi di Napoli "Federico II" NAPOLI
city: Palermo
country: Italy
facility: A.O.U. Policlinico "Giaccone"
city: Rimini
country: Italy
facility: AUSL della Romagna - Ospedale Infermi
city: Roma
country: Italy
facility: Fondazione Policlinico Universitario "Gemelli" IRCCS
Study officials:
affiliation: Università degli Studi di Napoli "Federico II" NAPOLI
name: Antonio Pisani, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Ospedale San Gerardo MONZA
name: Federico Pieruzzi, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: AUSL della Romagna - Ospedale Infermi RIMINI
name: Renzo Mignani, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Fondazione Policlinico Universitario "Gemelli" IRCCS ROMA
name: Elena Verrecchia, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: A.O.U. Policlinico "Giaccone" PALERMO
name: Davide Noto, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: A.O.U. Policlinico "Giaccone" PALERMO
name: Antonino Tuttolomondo, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: AUSL Toscana Sud-Est - Ospedale San Donato AREZZO
name: Maurizio Pieroni, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: A.O.U. Careggi FIRENZE
name: Iacopo Olivotto, MD
role: PRINCIPAL_INVESTIGATOR
References: