Prevalence of Fabry's Disease in a Population of Patients With Chronic Pains
CompletedNot applicableNCT01178164
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This study has no listed site in Canada in this snapshot. It is included as part of the worldwide chronic pain corpus.
Brief summary (from the registry)
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.
Study details
- Official title
- Prevalence of Fabry's Disease in a Population of Patients With Chronic Pains
- Conditions
- Pain
- Fabry's Disease
- Interventions
- Genetic: Blood sampling for biological and genetic analysis
- Sponsor
- University Hospital, Bordeaux
- Start date
- 2010-09
- Primary completion
- 2012-09
- Sex
- All
- Age range
- from 6 Years to 65 Years
- Results posted
- No results posted in this snapshot
- Countries
- France
- Total sites listed
- 1
Eligibility criteria
Show eligibility criteria (verbatim from the registry)
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
Source: ClinicalTrials.gov (US National Library of Medicine), snapshot October 2026. Check the registry for current recruiting status. Record: https://clinicaltrials.gov/study/NCT01178164