AzTrials
AzTrials

Fabry DiseaseGROUNDNCT04916977

Global Burden and Treatment Trajectiories in Italian Patients With Fabry Disease

An observational study of Fabry Disease, run by Chiesi Italia at 7 sites in Italy.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
Search all trials

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 Read more about this study

Who is it for?
Ages 18 years and older
Conditions the study is for
Fabry Disease
What is being tested?
FD patients
How many people
200 participants
Where
7 sitesItaly
Study dates
23 Jun 2021to 30 Jun 2022
Phase
Observational
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 18 years and older
  • All sexes
  • No healthy volunteers
  • Adult, Older adult

Study population: Patients with a confirmed FD diagnosis

Who may be able to join

  • 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).

Who cannot join

  • Not applicable

Trial locations and contacts

7 sites in 1 country.

7 sites in 1 country

Italy7 sites

  • AUSL Toscana Sud-Est - Ospedale San Donato

    Arezzo

  • A.O.U. Careggi

    Florence

  • U.O.C. Nefrologia ASST Monza - Ospedale San Gerardo

    Monza

  • U.O. di Nefrologia - Dipartimento di Sanità Pubblica Università degli Studi di Napoli "Federico II" NAPOLI

    Naples

  • A.O.U. Policlinico "Giaccone"

    Palermo

  • AUSL della Romagna - Ospedale Infermi

    Rimini

  • Fondazione Policlinico Universitario "Gemelli" IRCCS

    Roma

Other trials in Italy

About this study

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

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

Conditions
Fabry Disease
Being tested
FD patients
Keywords
Fabry Disease, Rare, Retrospective, Burden
Medical subject headings
Fabry Disease

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • FD patientsOther

    Patients with Fabry disease diagnosis

Study groups in NCT04916977
Study groupRoleWhat they receive
FD patientsNot described
Receives: Other: FD patients

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. 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;

    Measured: Baseline

  2. 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.

    Measured: Baseline

Secondary outcomes (9)

  1. 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)

    Measured: From the first available FASTEX score to baseline

  2. 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.

    Measured: Baseline

  3. Brief pain inventory score

    Uses simple numeric rating scales from 0 (no pain) to 10 (severe pain)

    Measured: Baseline

  4. 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.

    Measured: Baseline

  5. 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)

    Measured: Baseline

  6. 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.

    Measured: Baseline

  7. 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.

    Measured: Baseline

  8. Time from first manifestation to diagnosis

    Time from first manifestation to diagnosis

    Measured: Baseline

  9. 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.

    Measured: Baseline

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted8 Jun 2021
  2. Study start23 Jun 2021
  3. Primary completion30 Jun 2022
  4. Study completion30 Jun 2022

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Retrospective
Enrolment
200 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT04916977
Sponsor's protocol ID
DFIDM-2001
Acronym
GROUND
Status last verified
Nov 2023
First submitted
13 May 2021
Last updated
28 Nov 2023
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No

Questions about this trial

What is this clinical trial studying?

An observational study of Fabry Disease, run by Chiesi Italia at 7 sites in Italy.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 28 Nov 2023. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 7 sites in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Occurrence of severe and fatal clinical outcomes (time frame: Baseline). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT04916977.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Nov 2023.

AzTrials uses cookies for analytics and advertising. You can accept or reject them; the site works either way. Privacy Policy.

Free account

Log in to keep searching

You’ve used your 3 free searches. AzTrials is free: log in or create a free account to keep searching clinical trials and save the ones you want to follow.

Create a free accountLog in