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

Not Applicable

Completed

• Conditions: Fabry's Disease; Chronic Pain
• Interventions: Genetic: Diagnosis of Fabry disease

• Registration Number: NCT02450604
• Lead Sponsor: 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.

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 Timeline

• Study Start: 2015-03-05
• Study First Submitted: 2015-05-18
• Study First Submitted QC: 2015-05-20
• Study First Posted: 2015-05-21
• Primary Completion: 2021-12-15
• Study Completion: 2021-12-15
• Status Verified: 2023-08
• Last Update Submitted: 2023-08-11
• Last Update Posted: 2023-08-16

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 776

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 & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Patients with chronic pains of unknown aetiology	Diagnosis of Fabry disease	-

Primary Outcome Measures

Name	Time	Method
Diagnosis of Fabry disease in one patient suffering from chronic pains	J1 to 2 months after inclusion

Trial Locations

Locations (21)

Unité Douleur et Soins Palliatifs, CH La Rochelle-Réaunis; 🇫🇷 La Rochelle, France

Cs douleur chronique GHSR, CHU Sud Réunion; 🇫🇷 Saint Pierre, La Réunion, France

Service de médecine Polyvalent, CH de La Dracénie; 🇫🇷 Draguignan, France

Anesthésie, Hôpital Raymond Poincaré; 🇫🇷 Garches, France

Centre d'Analgésie Pédiatrique, Equipe Régionale Ressource en Soins Palliatifs-Equipe " Enfant-Do ", CHU de Toulouse; 🇫🇷 Toulouse, France

Centre d'évaluation et de traitement de la Douleur, Hôpital Pierre-Paul Ricquet; 🇫🇷 Toulouse, France

Centre Douleurs Chroniques, CH de la Côte Basque; 🇫🇷 Bayonne, France

Pôle Anesthésie Consultation douleur, CHRU de Lille; 🇫🇷 Lille, France

Centre d'Analgésie, CHRU Lapeyronie; 🇫🇷 Montpellier, France

Centre Antidouleurs, CHU de Reims; 🇫🇷 Reims, France

Centre de la douleur de l'Adulte et de l'Enfant, CHU de Grenoble; 🇫🇷 Grenoble, France

Centre d'Evaluation et de Traitement de la Douleur, CHU de Nîmes; 🇫🇷 Nimes, France

Service de Médecine de la Douleur et de Médecine Palliative, Hôpital Lariboisière-APHP; 🇫🇷 Paris, France

Pole enfant - CETD Salengro, CHRU de Lille; 🇫🇷 Lille, France

CETD La Timone, AP-HM; 🇫🇷 Marseille, France

Service de lutte contre la douleur et d'Anesthésie, CH Périgueux; 🇫🇷 Perigueux, France

Service d'Explorations Fonctionnelles et Consultations Neurologiques, CH Lyon-Sud; 🇫🇷 Pierre Benite, France

CeRCa, Unité de Neuromyologie, CHU de Fort de France; 🇫🇷 FORT DE France, Martinique, France

Centre Douleurs Chroniques, CHU de Bordeaux; 🇫🇷 Bordeaux, France

Centre de la Douleur, CHRU de Strasbourg; 🇫🇷 Strasbourg, France

Médecine - Consultations Douleur, CH de La Réole; 🇫🇷 La Reole, France