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

NCT01178164 | Completed

• 1 other identifier: CHUBX 2010/04
• Study Type: interventional
• Target: 137
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Pain; Fabry's Disease

Keywords

chronic pains; unknown aetiology

Outcome Measures

Primary Outcomes (1)

• Diagnosis of Fabry disease in one patient suffering from chronic pains

  1 year

Study Arms (1)

Diagnosis of Fabry disease

EXPERIMENTAL

Genetic: Blood sampling for biological and genetic analysis

Interventions

Blood sampling for biological and genetic analysis GENETIC

* 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

Eligibility Criteria

• Age: 6 Years - 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• chronic pain of known cause

Sponsors & Collaborators

• University Hospital, Bordeaux: lead

Study Sites (1)

Centre Douleurs Chroniques, Hopital Pellegrin

Bordeaux, 33076, France

Location

MeSH Terms

Conditions

Pain; Fabry Disease; Chronic Pain

Interventions

Blood Specimen Collection; Biological Products; Genetic Testing

Condition Hierarchy (Ancestors)

Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques; Complex Mixtures; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Officials

• Virginie DOUSSET, MD

  University Hospital, Bordeaux

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 4, 2010
• First Posted: August 10, 2010
• Study Start: September 1, 2010
• Primary Completion: September 1, 2012
• Study Completion: September 1, 2012
• Last Updated: April 4, 2013

Record last verified: 2013-04

Locations

FR (1)