We are updating the design of this site. Learn more.
Show more
ClinicalTrials.gov
ClinicalTrials.gov Menu

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

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT01178164
First Posted: August 10, 2010
Last Update Posted: April 4, 2013
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.
Information provided by (Responsible Party):
University Hospital, Bordeaux
August 4, 2010
August 10, 2010
April 4, 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 ]
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: None (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
Sexes Eligible for Study: All
6 Years to 65 Years   (Child, Adult)
No
Contact information is only displayed when the study is recruiting subjects
France
 
 
NCT01178164
CHUBX 2010/04
No
Not Provided
Not Provided
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