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Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain

NCT02450604 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 776

Last updated 2026-05-14

No results posted yet for this study

Summary

Fabry disease is a rare inherited metabolic disorder that predominantly affects heart, kidneys and nervous system. Fabry disease has been searched in series of patients presenting different isolated signs caused by the affection of one of these organs. Acroparesthesias and chronic crises of pain of different origins are reported in the large majority of patients during the progression of the disease. Moreover, this signs are frequently inaugurating the disease. The investigators have previously performed a preliminary single-center study which permitted to identify one female patient with Fabry disease in a series of 147 consecutive patients with chronic pain tested. The investigators now propose to confirm the results of our preliminary study. The investigators plan to evaluate the prevalence of Fabry disease in a series of 1000 patients suffering from chronic pains of undetermined aetiology and consecutively recruited.

Conditions

Interventions

GENETIC

Diagnosis of Fabry disease

The diagnosis of Fabry disease necessitates biochemical enzymatic measures of alphagalactosidase A activity in males, and genetic analysis using direct sequencing of GLA in females.

Sponsors & Collaborators

  • University Hospital, Bordeaux

    lead OTHER

Principal Investigators

  • Cyril GOIZET · University Hospital, Bordeaux

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
6 Years
Max Age
80 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2015-03-05
Primary Completion
2021-12-15
Completion
2021-12-15

Countries

  • France

Study Locations

More Related Trials

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 NCT02450604 on ClinicalTrials.gov