Clinical trial NCT02450604: Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain
Official title: Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Fabry's Disease
Chronic Pain
Keywords: Prevalence Study
Fabry's disease
Chronic pain
Lead sponsor: University Hospital, Bordeaux
Sponsor class: OTHER
First posted: 2015-05-21
Enrollment: 776
Sex: ALL
Minimum age (years): 6
Maximum age (years): 80
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: DIAGNOSTIC

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.

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

Primary outcomes:
measure: Diagnosis of Fabry disease in one patient suffering from chronic pains
timeFrame: J1 to 2 months after inclusion
Secondary outcomes:
Other outcomes:
Locations:
city: Saint Pierre
country: France
facility: Cs douleur chronique GHSR, CHU Sud Réunion
state: La Réunion
city: FORT DE France
country: France
facility: CeRCa, Unité de Neuromyologie, CHU de Fort de France
state: Martinique
city: Bayonne
country: France
facility: Centre Douleurs Chroniques, CH de la Côte Basque
city: Bordeaux
country: France
facility: Centre Douleurs Chroniques, CHU de Bordeaux
city: Draguignan
country: France
facility: Service de médecine Polyvalent, CH de La Dracénie
city: Garches
country: France
facility: Anesthésie, Hôpital Raymond Poincaré
city: Grenoble
country: France
facility: Centre de la douleur de l'Adulte et de l'Enfant, CHU de Grenoble
city: La Reole
country: France
facility: Médecine - Consultations Douleur, CH de La Réole
city: La Rochelle
country: France
facility: Unité Douleur et Soins Palliatifs, CH La Rochelle-Réaunis
city: Lille
country: France
facility: Pole enfant - CETD Salengro, CHRU de Lille
city: Lille
country: France
facility: Pôle Anesthésie Consultation douleur, CHRU de Lille
city: Marseille
country: France
facility: CETD La Timone, AP-HM
city: Montpellier
country: France
facility: Centre d'Analgésie, CHRU Lapeyronie
city: Nimes
country: France
facility: Centre d'Evaluation et de Traitement de la Douleur, CHU de Nîmes
city: Paris
country: France
facility: Service de Médecine de la Douleur et de Médecine Palliative, Hôpital Lariboisière-APHP
city: Perigueux
country: France
facility: Service de lutte contre la douleur et d'Anesthésie, CH Périgueux
city: Pierre Benite
country: France
facility: Service d'Explorations Fonctionnelles et Consultations Neurologiques, CH Lyon-Sud
city: Reims
country: France
facility: Centre Antidouleurs, CHU de Reims
city: Strasbourg
country: France
facility: Centre de la Douleur, CHRU de Strasbourg
city: Toulouse
country: France
facility: Centre d'Analgésie Pédiatrique, Equipe Régionale Ressource en Soins Palliatifs-Equipe " Enfant-Do ", CHU de Toulouse
city: Toulouse
country: France
facility: Centre d'évaluation et de traitement de la Douleur, Hôpital Pierre-Paul Ricquet
Study officials:
affiliation: University Hospital, Bordeaux
name: Cyril GOIZET
role: PRINCIPAL_INVESTIGATOR
References: