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| ID | Type | Description | Link |
|---|---|---|---|
| 2026-A00322-49 | Other Identifier | ANSM |
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Fabry's disease is an X-linked disorder that manifests differently in men and women, leading to differences in healthcare pathways. In women, the disease is sometimes diagnosed through family screening despite the presence of symptoms (symptoms appear later than in men, and the phenotypic expression of the disease is sometimes more subtle). Conversely, in men, the presence of symptoms combined with abnormalities in medical examinations facilitates diagnosis. There is limited data on the differences in healthcare pathways between men and women, which could nevertheless impact diagnosis by identifying a profile of at-risk patients, and consequently, their management.
The goal of this present study is to describe the differences in care pathways between men and women with Fabry's disease, distinguishing entry via symptoms or family screening through a non-interventional study based on a questionnaire sent to patients and on the collection of medical data at the time of diagnosis.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Fabry's disease patients | Male and female patients with Fabry's disease diagnosed by the presence of symptoms or following family screening |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Self-questionnaire | Other | Medical data of Fabry's disease |
|
| Measure | Description | Time Frame |
|---|---|---|
| Diagnostic time in care pathways between men and women with Fabry's disease | The average diagnostic time, compared between men and women, and the diagnostic methods (entry point into the disease), compared according to sex. | 8 months |
| Comparison of diagnostic methods between men and women | Data collection at the point of entry into the disease: via symptoms or family screening | 8 months |
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Inclusion Criteria:
Exclusion Criteria:
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Any adult patients with a Fabry's disease diagnosis
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Olivier LAIREZ | Contact | +33561323072 | lairez.o@chu-toulouse.fr |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Service de Cardiologie - 1 Avenue du Professeur Jean Poulhès | Toulouse | Occitanie | 31400 | France |
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| ID | Term |
|---|---|
| D000795 | Fabry Disease |
| ID | Term |
|---|---|
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
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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 |