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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation D313Y

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 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
Conditions
  1. 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 --- --- D313Y ---

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 years

Secondary Outcomes

Description: Change in GFR over 24 months

Measure: GFR

Time: 24 months

Description: Incidence of transient/manifest cerebral ischemia or stroke over 24 months.

Measure: Cerebral ischemia or stroke.

Time: 24 months

Description: Change in severity of neuropathic pain measured by Graded Chronic Pain Scale (GCPS)

Measure: Neuropathic Pain (GCPS)

Time: 24 months

Description: 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 months

Description: Change in disease severity measured by Mainz Severity Score Index (MSSI)

Measure: Fabry Disease Severity (MSSI)

Time: 24 months

Description: Change in disease severity measured by the Disease Severity Scoring System (DS3)

Measure: Fabry Disease Severity (DS3)

Time: 24 months

Description: Change in Lyso-Gb3

Measure: Lyso-Gb3

Time: 24 months

Description: Change of White Matter Lesion load (quantified by WML volumetry [ml]).

Measure: White Matter Lesion load

Time: 24 months

Description: Stabilization of cerebral microbleeds/hemorrhagic lesions.

Measure: Cerebral microbleeds/hemorrhagic lesions.

Time: 24 months

Description: Change in gastrointestinal symptoms (gastrointestinal symptoms rating scale, GSRS).

Measure: Gastrointestinal symptoms

Time: 24 months

Description: 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


HPO Nodes