Fabry DiseaseFABRY-SS-21NCT06801288
Diagnostic Role of Renal Biopsy in Patients With Fabry Disease
An observational study of Fabry Disease, run by IRCCS Azienda Ospedaliero-Universitaria di Bologna at 1 site in Italy.
Trial summary
This is a retrospective, single-centre, non-pharmacological observational study carried out for scientific and health protection purposes. It provides for the systematic collection of information from the medical records of patients with a genetic diagnosis of Fabry Disease referred to the single centre of Renal… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Fabry Disease
- How many people
- 80 participants
- Where
- 1 siteItaly
- Study dates
- 1 Dec 2021to 31 Jan 2023
- 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: All patients with a definite diagnosis of Fabry's disease who have been admitted to the IRCCS Azienda Ospedaliero-Universitaria di Bologna's single centre for Renal Genetic Diseases from 01/01/2012 to 31/12/2020 are eligible. Based on the number of patients afferent to the genetic kidney disease outpatient clinic, approximately 80 patients will be enrolled. The comparison will be performed on the basis of variables that are associated with Fabry disease in the literature, such as enzyme activity assessment, Lyso-GB3 assay, renal function parameters, enzyme therapy, genetic mutations and cardiac markers.
Who may be able to join
- Subjects over 18 years of age with a diagnosis of Fabry disease defined based on the 2017 guidelines.
- Obtaining written Informed Consent
Who cannot join
- None
Trial locations and contacts
1 site in 1 country.
Italy1 site
IRCCS Sant'Orsola University Hospital - Nephrology, Dialysis and Transplant Unit
Bologna, BO, 40138
About this study
This is a retrospective, single-centre, non-pharmacological observational study carried out for scientific and health protection purposes. It provides for the systematic collection of information from the medical records of patients with a genetic diagnosis of Fabry Disease referred to the single centre of Renal Genetic Diseases of the IRCCS Azienda Ospedaliero-Universitaria di Bologna.
These patients were considered eligible for the biopsy procedure if:
Read more
- presence of a clinical picture compatible with a classical phenotype
- presence of laboratory (microalbuminuria, proteinuria, GFR reduction by various methods) or instrumental (renal ecostructural features) pathological alterations suggestive of Fabry disease
- presence of VUS
- presence of an abnormal course of nephropathy or doubtful overlapping pathology.
Patients with ESRD were excluded.
Read the detailed description
The main objective of the study is to evaluate the diagnostic capacity, currently undocumented in the literature, of renal biopsy in patients with Anderson-Fabry disease, afferent to the Sant'Orsola-Malpighi General Hospital's Single Centre for Renal Genetic Diseases.
As secondary objectives we intend to assess whether the renal damage associated with Fabry disease, evidenced by histological features obtained by biopsy, manifests differently in subgroups of patients defined by:
- Gender
- CKD stage
- genetic mutations Individual pathological lesions are assessed using the Scoring System devised by the International Study Group of Fabry Nephropathy (ISGFN).
All patients with a definite diagnosis of Fabry's disease who have been admitted to the IRCCS Azienda Ospedaliero-Universitaria di Bologna's single centre for Renal Genetic Diseases from 01/01/2012 to 31/12/2020 are eligible. Based on the number of patients afferent to the genetic kidney disease outpatient clinic, approximately 80 patients will be enrolled. The comparison will be performed on the basis of variables that are associated with Fabry disease in the literature, such as enzyme activity assessment, Lyso-GB3 assay, renal function parameters, enzyme therapy, genetic mutations and cardiac markers.
- Conditions
- Fabry Disease
- Medical subject headings
- Fabry Disease
What is being measured
The primary outcome is the main question the study is designed to answer.
Diagnostic capacity of renal biopsy
The main objective of the study is to evaluate the diagnostic capacity, currently undocumented in the literature, of renal biopsy in patients with Anderson-Fabry disease
Measured: Baseline
Renal damage associated with Fabry disease
To assess whether the renal damage associated with Fabry disease, evidenced by histological features obtained by biopsy, using the Scoring System devised by the International Study Group of Fabry Nephropathy (ISGFN).
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Jan 2025
- Study start1 Dec 2021
- Primary completion31 Jan 2023
- Study completion31 Jan 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- More trials run by IRCCS Azienda Ospedaliero-Universitaria di BolognaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
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
- 80 participants (actual)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Gaetano La Manna, MD, Principal investigator, IRCCS Azienda Ospedaliero-Universitaria di Bologna
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06801288
- Sponsor's protocol ID
- FABRY-SS-21
- Acronym
- FABRY-SS-21
- Status last verified
- Dec 2024
- First submitted
- 30 Dec 2024
- Last updated
- 30 Jan 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 30 Jan 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Diagnostic Role of Renal Biopsy in Patients With Fabry Disease
- ClinicalTrials.gov ID
- NCT06801288
- Acronym / sponsor ID
- FABRY-SS-21 / FABRY-SS-21
- Conditions
- Fabry Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 80 participants (actual)
- Lead sponsor
- IRCCS Azienda Ospedaliero-Universitaria di BolognaUniversity, hospital or other
- Study start
- 1 Dec 2021 (actual)
- Primary completion
- 31 Jan 2023 (actual)
- Study completion
- 31 Jan 2023 (actual)
- First posted
- 30 Jan 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This is a retrospective, single-centre, non-pharmacological observational study carried out for scientific and health protection purposes. It provides for the systematic collection of information from the medical records of patients with a genetic diagnosis of Fabry Disease referred to the single centre of Renal Genetic Diseases of the IRCCS Azienda Ospedaliero-Universitaria di Bologna.
These patients were considered eligible for the biopsy procedure if:
- presence of a clinical picture compatible with a classical phenotype
- presence of laboratory (microalbuminuria, proteinuria, GFR reduction by various methods) or instrumental (renal ecostructural features) pathological alterations suggestive of Fabry disease
- presence of VUS
- presence of an abnormal course of nephropathy or doubtful overlapping pathology.
Patients with ESRD were excluded.
Detailed description
The main objective of the study is to evaluate the diagnostic capacity, currently undocumented in the literature, of renal biopsy in patients with Anderson-Fabry disease, afferent to the Sant'Orsola-Malpighi General Hospital's Single Centre for Renal Genetic Diseases.
As secondary objectives we intend to assess whether the renal damage associated with Fabry disease, evidenced by histological features obtained by biopsy, manifests differently in subgroups of patients defined by:
- Gender
- CKD stage
- genetic mutations Individual pathological lesions are assessed using the Scoring System devised by the International Study Group of Fabry Nephropathy (ISGFN).
All patients with a definite diagnosis of Fabry's disease who have been admitted to the IRCCS Azienda Ospedaliero-Universitaria di Bologna's single centre for Renal Genetic Diseases from 01/01/2012 to 31/12/2020 are eligible. Based on the number of patients afferent to the genetic kidney disease outpatient clinic, approximately 80 patients will be enrolled. The comparison will be performed on the basis of variables that are associated with Fabry disease in the literature, such as enzyme activity assessment, Lyso-GB3 assay, renal function parameters, enzyme therapy, genetic mutations and cardiac markers.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- All patients with a definite diagnosis of Fabry's disease who have been admitted to the IRCCS Azienda Ospedaliero-Universitaria di Bologna's single centre for Renal Genetic Diseases from 01/01/2012 to 31/12/2020 are eligible. Based on the number of patients afferent to the genetic kidney disease outpatient clinic, approximately 80 patients will be enrolled. The comparison will be performed on the basis of variables that are associated with Fabry disease in the literature, such as enzyme activity assessment, Lyso-GB3 assay, renal function parameters, enzyme therapy, genetic mutations and cardiac markers.
Key inclusion criteria (2 listed)
- Subjects over 18 years of age with a diagnosis of Fabry disease defined based on the 2017 guidelines.
- Obtaining written Informed Consent
Key exclusion criteria (1 listed)
- None
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Diagnostic capacity of renal biopsy
Time frame: Baseline
The main objective of the study is to evaluate the diagnostic capacity, currently undocumented in the literature, of renal biopsy in patients with Anderson-Fabry disease
Renal damage associated with Fabry disease
Time frame: Baseline
To assess whether the renal damage associated with Fabry disease, evidenced by histological features obtained by biopsy, using the Scoring System devised by the International Study Group of Fabry Nephropathy (ISGFN).
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Jan 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Gaetano La Manna, MD principal investigator
IRCCS Azienda Ospedaliero-Universitaria di Bologna
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fabry Disease, run by IRCCS Azienda Ospedaliero-Universitaria di Bologna at 1 site 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 2 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 30 Jan 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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?
Diagnostic capacity of renal biopsy (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?
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 30 Jan 2025.