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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01178164
Recruitment Status : Completed
First Posted : August 10, 2010
Last Update Posted : April 4, 2013
Information provided by (Responsible Party):
University Hospital, Bordeaux

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.

Condition or disease Intervention/treatment Phase
Pain Fabry's Disease Genetic: Blood sampling for biological and genetic analysis Not Applicable

Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 137 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Prevalence of Fabry's Disease in a Population of Patients With Chronic Pains
Study Start Date : September 2010
Actual Primary Completion Date : September 2012
Actual Study Completion Date : September 2012

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Chronic Pain

Arm Intervention/treatment
Experimental: Diagnosis of Fabry disease Genetic: 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.

Primary Outcome Measures :
  1. Diagnosis of Fabry disease in one patient suffering from chronic pains [ Time Frame: 1 year ]

Information from the National Library of Medicine

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Ages Eligible for Study:   6 Years to 65 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01178164

Centre Douleurs Chroniques, Hopital Pellegrin
Bordeaux Cedex, France, 33076
Sponsors and Collaborators
University Hospital, Bordeaux
Principal Investigator: Virginie DOUSSET, MD University Hospital, Bordeaux

Responsible Party: University Hospital, Bordeaux Identifier: NCT01178164     History of Changes
Other Study ID Numbers: CHUBX 2010/04
First Posted: August 10, 2010    Key Record Dates
Last Update Posted: April 4, 2013
Last Verified: April 2013

Keywords provided by University Hospital, Bordeaux:
chronic pains
unknown aetiology

Additional relevant MeSH terms:
Chronic Pain
Fabry Disease
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Vascular Diseases
Cardiovascular Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders