Prevalence of Fabry's Disease in a Population of Patients With Chronic Pains (DOUFAB)
|ClinicalTrials.gov Identifier: NCT01178164|
Recruitment Status : Completed
First Posted : August 10, 2010
Last Update Posted : April 4, 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 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)|
|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|
|Experimental: Diagnosis of Fabry disease||
Genetic: Blood sampling for biological and genetic analysis
- Diagnosis of Fabry disease in one patient suffering from chronic pains [ Time Frame: 1 year ]
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 ClinicalTrials.gov identifier (NCT number): NCT01178164
|Centre Douleurs Chroniques, Hopital Pellegrin|
|Bordeaux Cedex, France, 33076|
|Principal Investigator:||Virginie DOUSSET, MD||University Hospital, Bordeaux|