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

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
University Hospital, Bordeaux
ClinicalTrials.gov Identifier:
NCT01178164
First received: August 4, 2010
Last updated: April 3, 2013
Last verified: April 2013

August 4, 2010
April 3, 2013
September 2010
September 2012   (final data collection date for primary outcome measure)
Diagnosis of Fabry disease in one patient suffering from chronic pains [ Time Frame: 1 year ] [ Designated as safety issue: No ]
Same as current
Complete list of historical versions of study NCT01178164 on ClinicalTrials.gov Archive Site
Not Provided
Not Provided
Not Provided
Not Provided
 
Prevalence of Fabry's Disease in a Population of Patients With Chronic Pains
Prevalence of Fabry's Disease in a Population of Patients With Chronic Pains

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.

Not Provided
Interventional
Not Provided
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Diagnostic
  • Pain
  • Fabry's 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.
Experimental: Diagnosis of Fabry disease
Intervention: Genetic: Blood sampling for biological and genetic analysis
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Completed
137
September 2012
September 2012   (final data collection date for primary outcome measure)

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
Both
6 Years to 65 Years
No
Contact information is only displayed when the study is recruiting subjects
France
 
NCT01178164
CHUBX 2010/04
No
University Hospital, Bordeaux
University Hospital, Bordeaux
Not Provided
Principal Investigator: Virginie DOUSSET, MD University Hospital, Bordeaux
University Hospital, Bordeaux
April 2013

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP