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

This study has been completed.
Information provided by (Responsible Party):
University Hospital, Bordeaux Identifier:
First received: August 4, 2010
Last updated: April 3, 2013
Last verified: April 2013

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 Intervention
Pain Fabry's Disease Genetic: Blood sampling for biological and genetic analysis

Study Type: Interventional
Study Design: 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

Resource links provided by NLM:

Further study details as provided by University Hospital, Bordeaux:

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

Enrollment: 137
Study Start Date: September 2010
Study Completion Date: September 2012
Primary Completion Date: September 2012 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
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.


Ages Eligible for Study:   6 Years to 65 Years   (Child, 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
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Please refer to this study by its identifier: NCT01178164

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

Responsible Party: University Hospital, Bordeaux Identifier: NCT01178164     History of Changes
Other Study ID Numbers: CHUBX 2010/04
Study First Received: August 4, 2010
Last Updated: April 3, 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 processed this record on September 21, 2017