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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT02450604
Recruitment Status : Recruiting
First Posted : May 21, 2015
Last Update Posted : June 25, 2019
Information provided by (Responsible Party):
University Hospital, Bordeaux

Brief 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.

Condition or disease Intervention/treatment Phase
Fabry's Disease Chronic Pain Genetic: Diagnosis of Fabry disease Not Applicable

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.

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 1000 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain
Actual Study Start Date : March 5, 2015
Estimated Primary Completion Date : May 5, 2020
Estimated Study Completion Date : May 5, 2020

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Chronic Pain

Arm Intervention/treatment
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.

Primary Outcome Measures :
  1. Diagnosis of Fabry disease in one patient suffering from chronic pains [ Time Frame: J1 to 2 months after inclusion ]

Information from the National Library of Medicine

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Ages Eligible for Study:   6 Years to 80 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02450604

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Contact: Cyril GOIZET 05 56 79 59 52 ext +33

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Cs douleur chronique GHSR, CHU Sud Réunion Recruiting
Saint Pierre, La Réunion, France, 97448
Principal Investigator: Edwige CAND         
CeRCa, Unité de Neuromyologie, CHU de Fort de France Recruiting
FORT DE France, Martinique, France, 97261
Principal Investigator: Elisabeth SARRAZIN         
Centre Douleurs Chroniques, CH de la Côte Basque Recruiting
Bayonne, France, 64109
Principal Investigator: Laurence DAVID         
Centre Douleurs Chroniques, CHU de Bordeaux Recruiting
Bordeaux, France, 33076
Contact: Cyril GOIZET, Pr    +33 5 56 79 59 52   
Principal Investigator: Virginie DOUSSET         
Service de médecine Polyvalent, CH de La Dracénie Recruiting
Draguignan, France, 83007
Principal Investigator: Virginie PIANO         
Anesthésie, Hôpital Raymond Poincaré Not yet recruiting
Garches, France, 92380
Principal Investigator: Valéria MARTINEZ         
Centre de la douleur de l'Adulte et de l'Enfant, CHU de Grenoble Recruiting
Grenoble, France, 38043
Principal Investigator: Caroline MAINDET-DOMINICI         
Médecine - Consultations Douleur, CH de La Réole Recruiting
La Reole, France, 33192
Principal Investigator: Maud MARTIAL         
Unité Douleur et Soins Palliatifs, CH La Rochelle-Réaunis Recruiting
La Rochelle, France, 17019
Principal Investigator: Géraldine DE MONTGAZON         
Pole enfant - CETD Salengro, CHRU de Lille Recruiting
Lille, France, 59037
Principal Investigator: Christian LUCAS         
Pôle Anesthésie Consultation douleur, CHRU de Lille Not yet recruiting
Lille, France, 59037
Principal Investigator: Jean-Michel WATTIER         
CETD La Timone, AP-HM Recruiting
Marseille, France, 13385
Principal Investigator: Stéphanie RANQUE GARNIER         
Centre d'Analgésie, CHRU Lapeyronie Not yet recruiting
Montpellier, France, 34295
Principal Investigator: Frédéric BERNARD         
Centre d'Evaluation et de Traitement de la Douleur, CHU de Nîmes Not yet recruiting
Nimes, France, 30029
Principal Investigator: Eric VIEL         
Service de Médecine de la Douleur et de Médecine Palliative, Hôpital Lariboisière-APHP Not yet recruiting
Paris, France, 75475
Principal Investigator: Alain SERRIE         
Service de lutte contre la douleur et d'Anesthésie, CH Périgueux Recruiting
Perigueux, France, 24 019
Principal Investigator: Patrick LAFONT         
Service d'Explorations Fonctionnelles et Consultations Neurologiques, CH Lyon-Sud Recruiting
Pierre Benite, France, 69495
Principal Investigator: GONNAUD Pierre-Marie         
Centre Antidouleurs, CHU de Reims Not yet recruiting
Reims, France, 51092
Principal Investigator: Céline LISS         
Centre de la Douleur, CHRU de Strasbourg Recruiting
Strasbourg, France, 67091
Principal Investigator: André MULLER         
Centre d'Analgésie Pédiatrique, Equipe Régionale Ressource en Soins Palliatifs-Equipe " Enfant-Do ", CHU de Toulouse Recruiting
Toulouse, France, 31059
Principal Investigator: Agnès SUC         
Centre d'évaluation et de traitement de la Douleur, Hôpital Pierre-Paul Ricquet Recruiting
Toulouse, France, 31059
Principal Investigator: Nathalie CANTAGREL         
Sponsors and Collaborators
University Hospital, Bordeaux
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Principal Investigator: Cyril GOIZET University Hospital, Bordeaux

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Responsible Party: University Hospital, Bordeaux Identifier: NCT02450604     History of Changes
Other Study ID Numbers: CHUBX 2014/23
First Posted: May 21, 2015    Key Record Dates
Last Update Posted: June 25, 2019
Last Verified: June 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Keywords provided by University Hospital, Bordeaux:
Prevalence Study
Fabry's disease
Chronic pain

Additional relevant MeSH terms:
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Fabry Disease
Chronic Pain
Neurologic Manifestations
Signs and Symptoms
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
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders