SNPMiner Trials (Home Page)
Report for Mutation A143T
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There are 2 clinical trials
Clinical Trials
1 Fabry and Cardiomyopathy (FaCard) Epidemiological Study for the Analysis of Biomarkers and the Clinical Course of Patients With Fabry Disease and the N215S-mutation An Internationa,Multicenter, Epidemiological Study
Primary objective and endpoint is the analysis of the long-term course of lyso-Gb3 and its clinical correlation to the progression of the cardiomyopathy in N215S-Fabry patients.
NCT01429597 Cerebrovascular Accident Stroke, Acute Cerebral Stroke MeSH:Stroke Fabry Disease Cardiomyopathies
HPO:Angiokeratoma corporis diffusum Cardiomyopathy Stroke
Besides for instance R112H, A143T and R227X, also N215S belongs to this group (Dobrovolny et al., ASHG Abstract, 2008). --- R112H --- --- A143T ---
Primary Outcomes
Measure: analysis of the long-term course of lyso-Gb3 and its clinical correlation to the progression of the cardiomyopathy in N215S-Fabry patients Time: 24 month2 German Observational Multicenter Study of Patients With Fabry Disease Under Chaperone Therapy With Migalastat-HCl.
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.
NCT03135197 Fabry Disease MeSH:Fabry Disease
HPO:Angiokeratoma corporis diffusum
Exclusion Criteria: - Patient has a non-amenable GLA mutation or the mutation A143T or D313Y (for verification of amenable mutations please refer to: www.GalafoldAmenablityTable.com or to the "Fachinformation"). --- A143T ---
Primary Outcomes
Description: Primary endpoint of the observational study is the change in left ventricular mass index (LVMI) over two years.
Measure: LVMI Time: two yearsSecondary Outcomes
Description: Change in GFR over 24 months
Measure: GFR Time: 24 monthsDescription: Incidence of transient/manifest cerebral ischemia or stroke over 24 months.
Measure: Cerebral ischemia or stroke. Time: 24 monthsDescription: Change in severity of neuropathic pain measured by Graded Chronic Pain Scale (GCPS)
Measure: Neuropathic Pain (GCPS) Time: 24 monthsDescription: Change in severity of neuropathic pain measured by Neuropathic Pain Symptom Inventory (NPSI) Score (items are quantified on a (0-10) numerical scale).
Measure: Neuropathic Pain (NPSI) Time: 24 monthsDescription: Change in disease severity measured by Mainz Severity Score Index (MSSI)
Measure: Fabry Disease Severity (MSSI) Time: 24 monthsDescription: Change in disease severity measured by the Disease Severity Scoring System (DS3)
Measure: Fabry Disease Severity (DS3) Time: 24 monthsDescription: Change in Lyso-Gb3
Measure: Lyso-Gb3 Time: 24 monthsDescription: Change of White Matter Lesion load (quantified by WML volumetry [ml]).
Measure: White Matter Lesion load Time: 24 monthsDescription: Stabilization of cerebral microbleeds/hemorrhagic lesions.
Measure: Cerebral microbleeds/hemorrhagic lesions. Time: 24 monthsDescription: Change in gastrointestinal symptoms (gastrointestinal symptoms rating scale, GSRS).
Measure: Gastrointestinal symptoms Time: 24 monthsDescription: Change in quality of life (Short Form (SF-36) Health Survey: 36-item, patient-reported survey of patient health).
Measure: Quality of life (SF-36) Time: 24 months