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Diagnostic Role of Renal Biopsy in Patients With Fabry Disease

NCT06801288 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 80

Last updated 2025-01-30

No results posted yet for this study

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

Sponsors & Collaborators

  • IRCCS Azienda Ospedaliero-Universitaria di Bologna

    lead OTHER

Principal Investigators

  • Gaetano La Manna, MD · IRCCS Azienda Ospedaliero-Universitaria di Bologna

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-12-01
Primary Completion
2023-01-31
Completion
2023-01-31

Countries

  • Italy

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06801288 on ClinicalTrials.gov