Diagnostic Role of Renal Biopsy in Patients With Fabry Disease

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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Fabry Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Cardiovascular Diseases Central Nervous System Diseases Cerebral Small Vessel Diseases Cerebrovascular Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Genetic Diseases, X-Linked Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Sphingolipidoses Vascular Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

IRCCS Sant'Orsola University Hospital - Nephrology, Dialysis and Transplant Unit

Bologna, BO, 40138, Italy

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Subjects over 18 years of age with a diagnosis of Fabry disease defined based on the 2017 guidelines.
Obtaining written Informed Consent

Exclusion criteria

None

Treatment and study plan

Primary outcomes

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).

Sponsors and collaborators

Lead sponsor

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Other

Registry information

Acronym: FABRY-SS-21

Important dates

Study start: 2021
Primary completion: 2023
Study completion: 2023
First posted: Jan 30, 2025
Registry last updated: Jan 30, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed