Pain Clinical Trial
Official title:
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.
n/a
Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Diagnostic
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