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In the shared decision-making process, patients should express their expectations and preferences regarding treatment to the physician. A specific questionnaire addressing needs and expectations of Fabry patients has been built at the initiative of Amicus. In addition, this questionnaire also evaluates the benefit of treatment from the patient's perspective. Nothing is known until now on patient's expectations, potential clustering of patients regarding their expectations and evaluation of treatment benefit from the patients perspective.
Study objectives are differentiated according to the study phase (inclusion and follow-up). At inclusion, the primary objective is to cluster patients according to their needs and expectations regarding treatment. During follow-up, the primary objective is to evaluate treatment benefit in relation with patients needs and expectations.
Prospective, longitudinal, non-comparative, open-label, multicentre, non interventional cohort study.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Whole cohort | The whole cohort will be divided into clusters according to patients expectations and preferences regarding their treatment |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Noninterventional characterization of patients expectations and preferences regarding their treatment | Behavioral | Patients will be clustered before and after a principal components analysis (PCA) on Patients Needs Questionnaire (PNQ). Observations will be clustered by the Ward method. The number of clusters will be chosen using the Kolinski criteria. Characteristics of patients will be described by cluster. |
| Measure | Description | Time Frame |
|---|---|---|
| Homogeneous clusters of patients according to their needs and expectations towards the treatment received. | Number of clusters will be defined using a non-supervised classification method. | Baseline |
| Treatment benefit, derived from Patients Benefit Index (PBI), in relation to patients needs and expectations towards their specific treatment. | Patients Benefit Index (PBI): descriptive statistics. The PBI will be calculated by reference to the PNQ measured at the preceding visit The proportion of patients with PBI ≥ 1 will be described with a two-sided 95% confidence interval. | 12 month |
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Inclusion Criteria:
Exclusion Criteria:
- Concomitant patient participation in an interventional clinical study (Category 1 interventional research or category 2 interventional research according to the Jardé law classification in France)
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Patients with Fabry disease with the potential to be treated either by ERT or migalastat in real-life conditions and according to the SmPC
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| Name | Affiliation | Role |
|---|---|---|
| Olivier Lidove, MD | Groupe Hospitalier Diaconesses Croix Saint-Simon | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHU d'Angers | Angers | 49000 | France | |||
| CHU Pellegrin |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 41923254 | Derived | Lidove O, Masseau A, Pugnet G, Lacombe D, Dussol B, Bekri S, Hagege A, Martinez C, Fardini Y, Fouilhoux A, Noel E. Treatment-related benefit and satisfaction in patients with Fabry disease in France: insight into patients' expectations and preferences from the prospective, non-interventional SATIS-Fab study. Orphanet J Rare Dis. 2026 Apr 1;21(1):162. doi: 10.1186/s13023-026-04285-7. |
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|
| Bordeaux |
| 33000 |
| France |
| Hôpital Côte de Nacre | Caen | 14033 | France |
| CHU de Dijon | Dijon | 21000 | France |
| CHRU de Lille | Lille | 59037 | France |
| Hôpital Femme Mère Enfant | Lyon | 69000 | France |
| Hôpital de la Conception | Marseille | 13000 | France |
| CHU de Nantes | Nantes | 44000 | France |
| Hopital Tenon | Paris | 75000 | France |
| Groupe Hospitalier Diaconesses Croix Saint-Simon | Paris | France |
| CHU de Rennes | Rennes | 35000 | France |
| CHU de Rouen | Rouen | 76100 | France |
| CHU de Strasbourg | Strasbourg | 67000 | France |
| CHU de Toulouse | Toulouse | 31000 | France |
| CHU de Tours | Tours | 37000 | France |
| ID | Term |
|---|---|
| D000795 | Fabry Disease |
| ID | Term |
|---|---|
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| 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 |
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