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This is a noninterventional cohort study to evaluate the effects of migalastat, on long-term safety, effectiveness, and quality of life (QOL) in patients with Fabry disease.
Occurrence of key indicators of safety and effectiveness will be evaluated, such as cardiac, cerebrovascular and renal events, and overall survival. The study is designed to provide effectiveness and safety data by Q2 2023 which will cover a period up to 5 years after the migalastat launch date.
This will involve a retrospective data collection up to migalastat initiation (for patients already receiving migalastat) and a prospective follow-up from 1 to 3.5 years (depending on the time of enrollment) in migalastat-treated patients with Fabry disease who have a GLA mutation amenable to migalastat.
All visits will be scheduled and conducted according to the clinical site's standard of care. Standard of care is defined as a diagnostic and customary clinical treatment/practice process that a clinician chooses according to their clinical judgement for a Fabry disease patient. There are no study- required visits, tests or clinical assessments.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Miga-Fab patients | Miga-Fab is a French prospective, observational cohort study of patients with Fabry disease treated with migalastat |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Noninterventional | Other | Not applicable; Noninterventional study |
|
| Measure | Description | Time Frame |
|---|---|---|
| Safety - SAEs | Evaluation of the occurrence ie the number of SAEs | up to 60 months |
| Safety - vital signs | Evaluation of resting blood pressure | up to 60 months |
| Effectiveness - Fabry Associated Clinical Events (FACEs) | Evaluation of the occurrence of the FACEs ie total number of cardiac, cerebrovascular, and renal events | up to 60 months |
| Effectiveness - survival | Survival among all patients enrolled, as assessed by recorded patient death from any cause | From date of inclusion until the date of death from any cause, assessed up to 60 months |
| SF-12 12-Item Short Form Health Survey | Evaluation of QOL by the 12-Item Short Form Health Survey (SF-12) ; the higher the score the worse the quality of life is | up to 60 months |
| BPI | Brief pain inventory questionnaire ; the higher the score the more intense the pain is | up to 60 months |
| FABPRO-GI | Fabry Disease Patient-Reported Outcome-Gastro intestinal Signs and Symptoms Questionnaire ; the higher the score the more importante the GI symptoms are | inclusion to last visit |
| Cardiac echo imagery |
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Inclusion Criteria:
Exclusion Criteria:
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The Miga-Fab is open to participants with Fabry disease treated by migalastat. There is no predetermined sample size.
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| Name | Affiliation | Role |
|---|---|---|
| Olivier Lidove, Dr. | Groupe Hospitalier Diaconnesses Croix Saint Simon | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHU Angers | Angers | France | ||||
| CHU de Bordeaux |
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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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Echocardiogram (Echo) Left Ventricular Mass Index (LVMI) |
| up to 60 months |
| Treatment compliance | Patient adherence evaluation (% of taken intakes per month) as reported monthly through self-reports of forgotten intakes by the patient | up to 60 months |
| Bordeaux |
| France |
| Hôpital Pellegrin | Bordeaux | France |
| CHU Caen | Caen | France |
| CHU Lille | Lille | France |
| Hôpital femme mère enfant | Lyon | France |
| Hôpital de la Conception | AP-HM | Marseille | France |
| CHU de Nancy | Nancy | France |
| CHU Nantes Hôtel Dieu | Nantes | France |
| Hôpital de la Croix Saint Simon | Paris | France |
| Hôpital Tenon AP-HP | Paris | France |
| Hôpitaux Universitaires de Strasbourg | Strasbourg | France |
| CHU Toulouse Rangueil | Toulouse | France |
| 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 |