Diagnostic Role of Renal Biopsy in Patients With Fabry Disease

NCT06801288 | Completed

• 1 other identifier: FABRY-SS-21
• Study Type: observational
• Target: 80
• Locations: 1 country
• Sites: 1

Brief 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 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.

Conditions

Fabry Disease

Outcome Measures

Primary Outcomes (2)

• 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

  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).

  Baseline

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

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

You may not qualify if:

• None

Sponsors & Collaborators

• IRCCS Azienda Ospedaliero-Universitaria di Bologna: lead

Study Sites (1)

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

Bologna, BO, 40138, Italy

Location

MeSH Terms

Conditions

Fabry Disease

Condition Hierarchy (Ancestors)

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

Study Officials

• Gaetano La Manna, MD

  IRCCS Azienda Ospedaliero-Universitaria di Bologna

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 30, 2024
• First Posted: January 30, 2025
• Study Start: December 1, 2021
• Primary Completion: January 31, 2023
• Study Completion: January 31, 2023
• Last Updated: January 30, 2025

Record last verified: 2024-12

Locations

IT (1)