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. * LVMI is expected to remain stable or to be ameliorated over an average of 24 months treatment duration. The LVMI reduction observed in patients followed up to 24 months is expected to be significantly reduced with a mean change of -6.6 g/m2 (-11.0, -2.1, 95% CI). * eGFR \[CKD-EPI\] is expected to remain stable over an average of 24 months treatment duration. The long-term effect of Migalastat on eGFR is expected to be comparable to the decline over time in healthy adults. The annualized rate of change over this period is expected to be ≤1 mL/min/1.73 m2 in females and ≤3 mL/min/1.73 m2 in males. * Significant reduction is expected in plasma lyso-Gb3 concentration at month 6, month 12 and month 24 following treatment with Migalastat. * ERT-naïve patients treated with Migalastat are expected to show an improvement of GI symptoms (diarrhea) over 24 months. * No progression of White Matter Lesions (WML) during treatment duration is expected. * No higher frequency of stroke/transient cerebral ischemia during treatment duration is expected. * Severity of neuropathic pain is expected to remain stable or to improve during treatment duration. * Dosing/amount of symptomatic medications of neuropathic symptoms is expected to decrease during treatment duration.
Study Type
OBSERVATIONAL
Enrollment
75
Universtiy Hospital Münster
Münster, Germany
LVMI
Primary endpoint of the observational study is the change in left ventricular mass index (LVMI) over two years.
Time frame: two years
GFR
Change in GFR over 24 months
Time frame: 24 months
Cerebral ischemia or stroke.
Incidence of transient/manifest cerebral ischemia or stroke over 24 months.
Time frame: 24 months
Neuropathic Pain (GCPS)
Change in severity of neuropathic pain measured by Graded Chronic Pain Scale (GCPS)
Time frame: 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).
Time frame: 24 months
Fabry Disease Severity (MSSI)
Change in disease severity measured by Mainz Severity Score Index (MSSI)
Time frame: 24 months
Fabry Disease Severity (DS3)
Change in disease severity measured by the Disease Severity Scoring System (DS3)
Time frame: 24 months
Lyso-Gb3
Change in Lyso-Gb3
Time frame: 24 months
White Matter Lesion load
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Change of White Matter Lesion load (quantified by WML volumetry \[ml\]).
Time frame: 24 months
Cerebral microbleeds/hemorrhagic lesions.
Stabilization of cerebral microbleeds/hemorrhagic lesions.
Time frame: 24 months
Gastrointestinal symptoms
Change in gastrointestinal symptoms (gastrointestinal symptoms rating scale, GSRS).
Time frame: 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).
Time frame: 24 months