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

NCT02450604 | Completed

• 1 other identifier: CHUBX 2014/23
• Study Type: interventional
• Target: 776
• Locations: 1 country
• Sites: 21

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.

Conditions

Fabry's Disease; Chronic Pain

Keywords

Prevalence Study; Fabry's disease; Chronic pain

Outcome Measures

Primary Outcomes (1)

• Diagnosis of Fabry disease in one patient suffering from chronic pains

  J1 to 2 months after inclusion

Study Arms (1)

Patients with chronic pains of unknown aetiology

OTHER

Genetic: Diagnosis of Fabry disease

Interventions

Diagnosis of Fabry disease 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.

Patients with chronic pains of unknown aetiology

Eligibility Criteria

• Age: 6 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• chronic pain of known cause

Sponsors & Collaborators

• University Hospital, Bordeaux: lead

Study Sites (21)

Cs douleur chronique GHSR, CHU Sud Réunion

Saint-Pierre, La Réunion, 97448, France

Location

CeRCa, Unité de Neuromyologie, CHU de Fort de France

FORT de France, Martinique, 97261, France

Location

Centre Douleurs Chroniques, CH de la Côte Basque

Bayonne, 64109, France

Location

Centre Douleurs Chroniques, CHU de Bordeaux

Bordeaux, 33076, France

Location

Service de médecine Polyvalent, CH de La Dracénie

Draguignan, 83007, France

Location

Anesthésie, Hôpital Raymond Poincaré

Garches, 92380, France

Location

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

Grenoble, 38043, France

Location

Médecine - Consultations Douleur, CH de La Réole

La Réole, 33192, France

Location

Unité Douleur et Soins Palliatifs, CH La Rochelle-Réaunis

La Rochelle, 17019, France

Location

Pole enfant - CETD Salengro, CHRU de Lille

Lille, 59037, France

Location

Pôle Anesthésie Consultation douleur, CHRU de Lille

Lille, 59037, France

Location

CETD La Timone, AP-HM

Marseille, 13385, France

Location

Centre d'Analgésie, CHRU Lapeyronie

Montpellier, 34295, France

Location

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

Nîmes, 30029, France

Location

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

Paris, 75475, France

Location

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

Périgueux, 24 019, France

Location

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

Pierre-Bénite, 69495, France

Location

Centre Antidouleurs, CHU de Reims

Reims, 51092, France

Location

Centre de la Douleur, CHRU de Strasbourg

Strasbourg, 67091, France

Location

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

Toulouse, 31059, France

Location

Centre d'évaluation et de traitement de la Douleur, Hôpital Pierre-Paul Ricquet

Toulouse, 31059, France

Location

MeSH Terms

Conditions

Fabry Disease; Chronic Pain

Condition Hierarchy (Ancestors)

Sphingolipidoses; 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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders; Pain; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Cyril GOIZET

  University Hospital, Bordeaux

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 18, 2015
• First Posted: May 21, 2015
• Study Start: March 5, 2015
• Primary Completion: December 15, 2021
• Study Completion: December 15, 2021
• Last Updated: August 16, 2023

Record last verified: 2023-08

Data Sharing

• IPD Sharing: Will not share

Locations

FR (21)