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

Pain Clinical Trial

— DOUFAB  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01178164
• Other study ID #: CHUBX 2010/04
• Status: Completed
• Phase: N/A
• First received: August 4, 2010
• Last updated: April 3, 2013
• Start date: September 2010
• Est. completion date: September 2012

Study information

• Verified date: April 2013
• Source: University Hospital, Bordeaux
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)
• Study type: Interventional

Clinical Trial Summary

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 137
• Est. completion date: September 2012
• Est. primary completion date: September 2012
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 6 Years to 65 Years

Eligibility

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

Study Design

Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Diagnostic

Related Conditions & MeSH terms

• Chronic Pain
• Fabry Disease
• Fabry's Disease
• Pain

Intervention

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.

Locations

Country	Name	City	State
France	Centre Douleurs Chroniques, Hopital Pellegrin	Bordeaux Cedex

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Bordeaux

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Diagnosis of Fabry disease in one patient suffering from chronic pains		1 year	No