Fabry : National Initiative of Screening

NCT00484549 | Completed

• 1 other identifier: CHU63-0019
• Study Type: interventional
• Target: 889
• Locations: 1 country
• Sites: 1

Brief Summary

Fabry disease is a genetic disease due to an enzymatic deficit. A screening of this disease allows patients to benefit from an enzyme replacement therapy and prevent the occurrence of life threatening manifestations such as an ischemic stroke. The purpose of the study is to determinate the prevalence of Fabry disease in a population of male patients hospitalized for an ischemic stroke. This study, with a screening of Fabry disease, allows the patients to make a precise diagnosis of their ischemic stroke and to facilitate the screening of the other members at the facility.

Conditions

Ischemic Stroke Hospitalized

Keywords

Fabry disease, Screening, Ischemic stroke

Outcome Measures

Primary Outcomes (1)

• Fabry disease's screening (Positive microdosage confirmed by a macrodosage)

  Positive microdosage confirmed by a macrodosage

Secondary Outcomes (1)

• Describe and compare the characteristics of patients affected by Fabry disease and patients who are not affected Identify clinical and neuroradiological predictive elements of Fabry disease

  patients affected by Fabry disease

Interventions

Blood sample PROCEDURE

Ischemic stroke hospitalized

Eligibility Criteria

• Age: 28 Days - 55 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Hospitalized ischemic stroke
• Written and signed informed consent from patient or legal representative

You may not qualify if:

• Patients belonging to a family which has a Fabry disease's diagnosis confirmed

Sponsors & Collaborators

• University Hospital, Clermont-Ferrand: lead

Study Sites (1)

Hôpital Gabriel Montpied

Clermont-Ferrand, 63003, France

Location

Related Publications (1)

• Clavelou P, Besson G, Elziere C, Ferrier A, Pinard JM, Hermier M, Artigou JY, Germain DP. [Neurological aspects of Fabry's disease]. Rev Neurol (Paris). 2006 May;162(5):569-80. doi: 10.1016/s0035-3787(06)75051-2. French.

  PMID: 16710123 BACKGROUND

MeSH Terms

Conditions

Fabry Disease; Ischemic Stroke

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

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; Stroke

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Pierre Clavelou, Pr

  Unaffilliated

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: SINGLE
• Who Masked: PARTICIPANT
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER

Study Record Dates

• First Submitted: June 8, 2007
• First Posted: June 11, 2007
• Study Start: March 1, 2007
• Primary Completion: December 1, 2008
• Study Completion: December 1, 2009
• Last Updated: December 21, 2009

Record last verified: 2009-12

Locations

FR (1)