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

May 11, 2026 updated by: University Hospital, Bordeaux
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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

Fabry disease (FD) is a rare X-linked multisytemic lysosomal disorder caused by alpha-galactosidase deficiency. Globotriaosylcéramide (Gb3) deposits are observed in almost all tissues examined. Signs of the disease appear earlier and are more severe in affected males than in females. Myocardiopathy, renal failure and neurological signs including chronic pain and peripheral neuropathies are the most frequent signs. The availability of two enzymatic replacement therapies now provides a specific and effective treatment for patients. The prevalence of FD is estimated between 1/40,000 and 1/117,000. The frequency of Fabry disease has previously been estimated in several series of patients presenting one single sign, ie renal failure, hypertrophic myocardiopathy and early onset stroke. However, no data are available about the prevalence of FD in populations of patients suffering from chronic pains of unknown origin.

The diagnosis of FD will be performed by standard procedures following international recommendations. These require the search for a deficiency of alphagalactosidase A activity on leucocytes in males and genetic analysis of the GLA gene in females (Germain et al. 2010).

The patients in whom the diagnosis of FD is established during this study, will be call in for an additional visit in the Investigating Centre in order to confirm the diagnosis and propose suitable assessment and care.

Study Type

Interventional

Enrollment (Actual)

776

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Bayonne, France, 64109
        • Centre Douleurs Chroniques, CH de la Côte Basque
      • Bordeaux, France, 33076
        • Centre Douleurs Chroniques, CHU de Bordeaux
      • Draguignan, France, 83007
        • Service de médecine Polyvalent, CH de La Dracénie
      • Garches, France, 92380
        • Anesthésie, Hôpital Raymond Poincaré
      • Grenoble, France, 38043
        • Centre de la douleur de l'Adulte et de l'Enfant, CHU de Grenoble
      • La Rochelle, France, 17019
        • Unité Douleur et Soins Palliatifs, CH La Rochelle-Réaunis
      • La Réole, France, 33192
        • Médecine - Consultations Douleur, CH de La Réole
      • Lille, France, 59037
        • Pole enfant - CETD Salengro, CHRU de Lille
      • Lille, France, 59037
        • Pôle Anesthésie Consultation douleur, CHRU de Lille
      • Marseille, France, 13385
        • CETD La Timone, AP-HM
      • Montpellier, France, 34295
        • Centre d'Analgésie, CHRU Lapeyronie
      • Nîmes, France, 30029
        • Centre d'Evaluation et de Traitement de la Douleur, CHU de Nîmes
      • Paris, France, 75475
        • Service de Médecine de la Douleur et de Médecine Palliative, Hôpital Lariboisière-APHP
      • Pierre-Bénite, France, 69495
        • Service d'Explorations Fonctionnelles et Consultations Neurologiques, CH Lyon-Sud
      • Périgueux, France, 24 019
        • Service de lutte contre la douleur et d'Anesthésie, CH Périgueux
      • Reims, France, 51092
        • Centre Antidouleurs, CHU de Reims
      • Strasbourg, France, 67091
        • Centre de la Douleur, CHRU de Strasbourg
      • Toulouse, France, 31059
        • Centre d'Analgésie Pédiatrique, Equipe Régionale Ressource en Soins Palliatifs-Equipe " Enfant-Do ", CHU de Toulouse
      • Toulouse, France, 31059
        • Centre d'évaluation et de traitement de la Douleur, Hôpital Pierre-Paul Ricquet
    • La Réunion
      • Saint-Pierre, La Réunion, France, 97448
        • Cs douleur chronique GHSR, CHU Sud Réunion
    • Martinique
      • FORT de France, Martinique, France, 97261
        • CeRCa, Unité de Neuromyologie, CHU de Fort de France

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

6 years to 80 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Description

Inclusion Criteria:

  • patients of both sex,
  • aged from 6 to 80,
  • with chronic pains of unknown aetiology including: acroparesthesias, and/or pain crises evolving more than 3 months, continued neuropathic evolving more than 3 months, and/or multiple pains evolving more than 3 months and/or recurrent abdominal crises of pain who come for a clinical visit in the pain Centres of France.

Exclusion Criteria:

  • chronic pain of known cause

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Diagnostic
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Other: Patients with chronic pains of unknown aetiology
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Diagnosis of Fabry disease in one patient suffering from chronic pains
Time Frame: J1 to 2 months after inclusion
J1 to 2 months after inclusion

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Bordeaux

Investigators

  • Principal Investigator: Cyril GOIZET, University Hospital, Bordeaux

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

March 5, 2015

Primary Completion (Actual)

December 15, 2021

Study Completion (Actual)

December 15, 2021

Study Registration Dates

First Submitted

May 18, 2015

First Submitted That Met QC Criteria

May 20, 2015

First Posted (Estimated)

May 21, 2015

Study Record Updates

Last Update Posted (Actual)

May 14, 2026

Last Update Submitted That Met QC Criteria

May 11, 2026

Last Verified

August 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • CHUBX 2014/23

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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