An interventional study of Blood sampling for biological and genetic analysis in Pain and Fabry's Disease, sponsored by University Hospital, Bordeaux. Completed at 1 site in France. Open to participants aged 6 Years to 65 Years. Per ClinicalTrials.gov, last updated 2026-05-29.
Sponsored by University Hospital, Bordeaux · Not applicable, Interventional, and Diagnostic
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.
2,219 studies on the registry are indexed under Pain; 915 are open to participants now.
This study's enrollment of 137 is above the median of 70 across 1,901 interventional studies indexed under Pain.
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Exclusion Criteria:
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.
Diagnosis of Fabry disease in one patient suffering from chronic pains
Time frame: 1 year
This study is completed, as verified in Apr 2013. You cannot join it, but the record below documents what was studied.
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University Hospital, Bordeaux