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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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Blood sample | Procedure | Ischemic stroke hospitalized |
| Measure | Description | Time Frame |
|---|---|---|
| Fabry disease's screening (Positive microdosage confirmed by a macrodosage) | Positive microdosage confirmed by a macrodosage |
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Pierre Clavelou, Pr | Unaffilliated | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hôpital Gabriel Montpied | Clermont-Ferrand | 63003 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 16710123 | Background | 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. |
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| ID | Term |
|---|---|
| D000795 | Fabry Disease |
| D000083242 | Ischemic Stroke |
| ID | Term |
|---|---|
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
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| ID | Term |
|---|---|
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
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| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D059345 | Cerebral Small Vessel Diseases |
| D002561 | Cerebrovascular Disorders |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |
| D020521 | Stroke |
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |