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| ID | Type | Description | Link |
|---|---|---|---|
| UF 7561 | Other Identifier | Montpellier University Hospital |
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Low recreuitement numbers and end of grant.
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Single centre, prospective pilot study examining the relevance to screen for Fabry disease in a cohort of patients who have undergone renal transplantation for nephropathy of indeterminate cause, vascular nephropathy, diabetic nephropathy or secondary focal segmental hyalinosis with no established cause.
Exploration whether Fabry disease cases can be identified among patients who are followed at the Montpellier University Hospital after renal transplantation, with indeterminate cause of renal failure or diabetic nephropathy (due to its high frequency) or secondary focal segmental hyalinosis (FSH).
At the population level, the identification of cases at the Montpellier centre could then justify to expand this screening to other French centres. The goal is to contribute to adapt current guidelines of renal failure assessment, by systematically including Fabry among the diagnostic tests. Whether all patients with renal failure are concerned, or only those with indeterminate cause, is an important question this study will address.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Screening for Fabry disease | Diagnostic Test | Screening for the α-galactosidase (GAL) enzyme activity (men + women) and plasma Lyso globotriaosylsphingosine (GL3, women) for the diagnosis of Fabry disease. | ||
| Screen for α-galactosidase mutation | Diagnostic Test | If necessary (positive for GAL), genetic confirmation tests for Fabry disease will be performed (men + women). |
| Measure | Description | Time Frame |
|---|---|---|
| Number of Patients with Positive screen result | The genetic analysis will be performed based on the biochemical results (low enzyme activity, raised lysoGL3) | Inclusion visit |
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Inclusion Criteria:
Exclusion Criteria:
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Patients identified from a database, who have undergone renal transplantation for nephropathy of indeterminate cause, vascular nephropathy, diabetic nephropathy or secondary focal segmental hyalinosis with no established cause, and still followed at the Montpellier University Hospital.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Uh Montpellier | Montpellier | 34295 | France |
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| ID | Term |
|---|---|
| D000795 | Fabry Disease |
| D007674 | Kidney Diseases |
| D003928 | Diabetic Nephropathies |
| 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 |
|---|---|
| D008403 | Mass Screening |
| D055088 | Early Detection of Cancer |
| ID | Term |
|---|---|
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D006306 | Health Surveys |
| D011795 | Surveys and Questionnaires |
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Two 9 mL EDTA (ethylenediaminetetraacetic acid) blood samples
| 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 |
| D014570 | Urologic Diseases |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D048909 | Diabetes Complications |
| D003920 | Diabetes Mellitus |
| D004700 | Endocrine System Diseases |
| D003625 | Data Collection |
| D004812 | Epidemiologic Methods |
| D008919 | Investigative Techniques |
| D003954 | Diagnostic Services |
| D011314 | Preventive Health Services |
| D006296 | Health Services |
| D005159 | Health Care Facilities Workforce and Services |
| D017531 | Health Care Evaluation Mechanisms |
| D011787 | Quality of Health Care |
| D017530 | Health Care Quality, Access, and Evaluation |
| D011634 | Public Health |
| D004778 | Environment and Public Health |
| D015980 | Public Health Practice |
| D042241 | Early Diagnosis |