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

Chronic Pain Clinical Trial

— DOUFABIS  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02450604
• Other study ID #: CHUBX 2014/23
• Status: Completed
• Phase: N/A
• Start date: March 5, 2015
• Est. completion date: December 15, 2021

Study information

• Verified date: August 2023
• Source: University Hospital, Bordeaux
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 776
• Est. completion date: December 15, 2021
• Est. primary completion date: December 15, 2021
• Accepts healthy volunteers: No
• Gender: All
• Age group: 6 Years to 80 Years

Eligibility

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

Related Conditions & MeSH terms

• Chronic Pain
• Fabry Disease
• Fabry's Disease

Intervention

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.

Locations

Country	Name	City	State
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	CeRCa, Unité de Neuromyologie, CHU de Fort de France	FORT DE France	Martinique
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 Reole
France	Unité Douleur et Soins Palliatifs, CH La Rochelle-Réaunis	La Rochelle
France	Pôle Anesthésie Consultation douleur, CHRU de Lille	Lille
France	Pole enfant - CETD Salengro, 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	Nimes
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	Perigueux
France	Service d'Explorations Fonctionnelles et Consultations Neurologiques, CH Lyon-Sud	Pierre Benite
France	Centre Antidouleurs, CHU de Reims	Reims
France	Cs douleur chronique GHSR, CHU Sud Réunion	Saint Pierre	La Réunion
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

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Bordeaux

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Diagnosis of Fabry disease in one patient suffering from chronic pains		J1 to 2 months after inclusion