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

NCT ID: NCT01178164

Last Updated: 2013-04-04

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 137 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2010-09-30
• Study Completion Date: 2012-09-30

Brief Summary

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 (Lidove et al. 2007).

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

Pain; Fabry's Disease

Study Design

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

Study Groups

Diagnosis of Fabry disease

Group Type: EXPERIMENTAL

Blood sampling for biological and genetic analysis

Intervention Type: GENETIC

• Clinical examination
• Blood sampling for biochemical enzymatic measures of alphagalactosidase A activity in males, and genetic analysis using direct sequencing of GLA in females.

Interventions

Blood sampling for biological and genetic analysis

• Clinical examination
• Blood sampling for 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 65
• 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 Centre Douleurs Chroniques in the CHU of Bordeaux.

Exclusion Criteria

• chronic pain of known cause

• Minimum Eligible Age: 6 Years
• Maximum Eligible Age: 65 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

University Hospital, Bordeaux

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Virginie DOUSSET, MD

Role: PRINCIPAL_INVESTIGATOR

University Hospital, Bordeaux

Locations

Centre Douleurs Chroniques, Hopital Pellegrin

Bordeaux, , France

Countries

France

Other Identifiers

CHUBX 2010/04

Identifier Type: -

Identifier Source: org_study_id