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

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: Chronic Pain; Fabry's Disease
• Intervention / Treatment: Genetic: Diagnosis of Fabry disease

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

• Study Contact: Name: Cyril GOIZET; Phone Number: +33 05 56 79 59 52; Email: cyril.goizet@chu-bordeaux.fr

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 Reole, France, 33192
    • Médecine - Consultations Douleur, CH de La Réole
  • La Rochelle, France, 17019
    • Unité Douleur et Soins Palliatifs, CH La Rochelle-Réaunis
  • 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
  • Nimes, 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
  • Perigueux, France, 24 019
    • Service de lutte contre la douleur et d'Anesthésie, CH Périgueux
  • Pierre Benite, France, 69495
    • Service d'Explorations Fonctionnelles et Consultations Neurologiques, CH Lyon-Sud
  • 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

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

How is the study designed?

Design Details

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

Number of Arms

1

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	J1 to 2 months after inclusion

Collaborators and Investigators

• Sponsor: University Hospital, Bordeaux
• Investigators: Principal Investigator: Cyril GOIZET, University Hospital, Bordeaux

Study record dates

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): August 16, 2023
• Last Update Submitted That Met QC Criteria: August 11, 2023
• Last Verified: August 1, 2023

More Information

Terms related to this study

• Keywords: Chronic pain; Fabry's disease; Prevalence Study
• Additional Relevant MeSH Terms: Cardiovascular Diseases; Vascular Diseases; Metabolic Diseases; Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Pain; Neurologic Manifestations; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Cerebral Small Vessel Diseases; Lipidoses; Lipid Metabolism, Inborn Errors; Chronic Pain; Fabry Disease
• Other Study ID Numbers: CHUBX 2014/23

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO