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| Name | Class |
|---|---|
| Amicus Therapeutics | INDUSTRY |
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The objective of the study is to document long term data on treatment with Migalastat under "real world" conditions. The selection of patients is based on the SmPC/Fachinformation. The study duration/patient will be 2 years.
Phase 3 data should be confirmed in this study with long-term data.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Migalastat | Migalastat administered according to SmPC |
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| Measure | Description | Time Frame |
|---|---|---|
| LVMI | Primary endpoint of the observational study is the change in left ventricular mass index (LVMI) over two years. | two years |
| Measure | Description | Time Frame |
|---|---|---|
| GFR | Change in GFR over 24 months | 24 months |
| Cerebral ischemia or stroke. | Incidence of transient/manifest cerebral ischemia or stroke over 24 months. |
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Inclusion Criteria:
The following Inclusion criteria refer to the time of Migalastat initiation (T0):
Exclusion Criteria:
The following Exclusion criteria refer to the time of Migalastat initiation (T0):
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At therapy initiation adult male and female patients with FD will be identified, whose GLA mutations are amenable for a stimulation with Migalastat-HCl, and will be treated with Migalastat-HCl at the recommended dose continuously for 24 months according to the manufacturers' instructions (SmPC).
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| Name | Affiliation | Role |
|---|---|---|
| Eva Brand, Prof. | University Hospital Muenster | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Universtiy Hospital Münster | Münster | 48149 | Germany |
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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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| 24 months |
| Neuropathic Pain (GCPS) | Change in severity of neuropathic pain measured by Graded Chronic Pain Scale (GCPS) | 24 months |
| Neuropathic Pain (NPSI) | Change in severity of neuropathic pain measured by Neuropathic Pain Symptom Inventory (NPSI) Score (items are quantified on a (0-10) numerical scale). | 24 months |
| Fabry Disease Severity (MSSI) | Change in disease severity measured by Mainz Severity Score Index (MSSI) | 24 months |
| Fabry Disease Severity (DS3) | Change in disease severity measured by the Disease Severity Scoring System (DS3) | 24 months |
| Lyso-Gb3 | Change in Lyso-Gb3 | 24 months |
| White Matter Lesion load | Change of White Matter Lesion load (quantified by WML volumetry [ml]). | 24 months |
| Cerebral microbleeds/hemorrhagic lesions. | Stabilization of cerebral microbleeds/hemorrhagic lesions. | 24 months |
| Gastrointestinal symptoms | Change in gastrointestinal symptoms (gastrointestinal symptoms rating scale, GSRS). | 24 months |
| Quality of life (SF-36) | Change in quality of life (Short Form (SF-36) Health Survey: 36-item, patient-reported survey of patient health). | 24 months |
| 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 |