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

NCT ID: NCT02450604

Last Updated: 2023-08-16

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 776 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2015-03-05
• Study Completion Date: 2021-12-15

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.

Conditions

Fabry's Disease; Chronic Pain

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: DIAGNOSTIC
• Blinding Strategy: NONE

Study Groups

Patients with chronic pains of unknown aetiology

Group Type: OTHER

Diagnosis of Fabry disease

Intervention Type: GENETIC

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.

Interventions

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.

Intervention Type: GENETIC

Eligibility Criteria

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

• Minimum Eligible Age: 6 Years
• Maximum Eligible Age: 80 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

University Hospital, Bordeaux

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Cyril GOIZET

Role: PRINCIPAL_INVESTIGATOR

University Hospital, Bordeaux

Locations

Cs douleur chronique GHSR, CHU Sud Réunion

Saint-Pierre, La Réunion, France

CeRCa, Unité de Neuromyologie, CHU de Fort de France

FORT de France, Martinique, France

Centre Douleurs Chroniques, CH de la Côte Basque

Bayonne, , France

Centre Douleurs Chroniques, CHU de Bordeaux

Bordeaux, , France

Service de médecine Polyvalent, CH de La Dracénie

Draguignan, , France

Anesthésie, Hôpital Raymond Poincaré

Garches, , France

Centre de la douleur de l'Adulte et de l'Enfant, CHU de Grenoble

Grenoble, , France

Médecine - Consultations Douleur, CH de La Réole

La Réole, , France

Unité Douleur et Soins Palliatifs, CH La Rochelle-Réaunis

La Rochelle, , France

Pole enfant - CETD Salengro, CHRU de Lille

Lille, , France

Pôle Anesthésie Consultation douleur, CHRU de Lille

Lille, , France

CETD La Timone, AP-HM

Marseille, , France

Centre d'Analgésie, CHRU Lapeyronie

Montpellier, , France

Centre d'Evaluation et de Traitement de la Douleur, CHU de Nîmes

Nîmes, , France

Service de Médecine de la Douleur et de Médecine Palliative, Hôpital Lariboisière-APHP

Paris, , France

Service de lutte contre la douleur et d'Anesthésie, CH Périgueux

Périgueux, , France

Service d'Explorations Fonctionnelles et Consultations Neurologiques, CH Lyon-Sud

Pierre-Bénite, , France

Centre Antidouleurs, CHU de Reims

Reims, , France

Centre de la Douleur, CHRU de Strasbourg

Strasbourg, , 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

Countries

France

Other Identifiers

CHUBX 2014/23

Identifier Type: -

Identifier Source: org_study_id