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| ID | Type | Description | Link |
|---|---|---|---|
| FLAGGING FD-1 | Other Identifier | Takeda |
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The main aim of this study is early detection of FD using real-world data for the development of advanced natural language processing methods and to develop a predictive algorithm and to measure the performance of the algorithm in identifying participants with FD.
This study is about using data from hospital Electronic Health Record database from the last 10 years to describe the ranking of participants with FD using multilevel likelihood ratios and to validate the algorithm using positive controls. No investigational medicinal product or device will be tested in this study. Hospital electronic health record data will be analyzed for a period of up to 6 months.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Retrospective Database Analysis | Data from patient's hospital records of the last 10 years will be collected/extracted retrospectively using epidemiological methods to test the forecasting power of the algorithm. |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| No intervention | Other | This is non-interventional study. |
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| Measure | Description | Time Frame |
|---|---|---|
| Percentage of Participants With Positive Predictive Value (PPV) at Different Cut-off Values (top 10, 20, 50, 100 and 200) | PPV is a clinically relevant statistical measure that indicates how likely participants that screen positive are to be affected by the condition assessed. Thus, the PPV can be considered as the percentage of participants which are identified as FD candidates by the ranking algorithm who are indeed FD participants. As FD predictive algorithm, we will use (multilevel) likelihood ratios (LRs) as this method permits a good use of clinical test results to establish diagnoses for the individual participant. LR is calculated, defined as the probability of a patient who has FD to present with this feature divided by the probability of a participant who not has FD to present with the feature: Likelihood ratio= features the participant/Fabry divided by features the participant/not Fabry. Positive predictive value of the algorithm at several cutoffs (top 10, top 20, top 50, top 100, top 200) will be reported. | Up to End of the study (approximately 6 months) |
| Measure | Description | Time Frame |
|---|---|---|
| Percentage of Participants Based on Ranking With Known FD Using Multilevel Likelihood Ratios For Algorithm Validation Purposes | To validate the algorithm, records of participants with a high predictive value are reexamined by medical experts who assess the likelihood of FD based on the participant records. Percentage of participants based on ranking with known FD using multilevel likelihood ratios for algorithm validation purpose will be reported. Likelihood ratio= features the participant/Fabry divided by features the participant/not Fabry. |
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Inclusion criteria:
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Data from all in-patient or out- patient datasets of the participating hospital in the last 10 years will be used to test the forecasting power of the algorithm.
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| Name | Affiliation | Role |
|---|---|---|
| Study Director | Takeda | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Universitätsklinikum Erlangen Kinder- und Jugendklinik | Erlangen | 91054 | Germany | |||
| Universitätsklinikum Erlangen Neurologische Klinik |
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| Label | URL |
|---|---|
| To obtain more information on the study, click here/on this link | View source |
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Takeda provides access to the de-identified individual participant data (IPD) for eligible studies to aid qualified researchers in addressing legitimate scientific objectives (Takeda's data sharing commitment is available on https://clinicaltrials.takeda.com/takedas-commitment?commitment=5). These IPDs will be provided in a secure research environment following approval of a data sharing request, and under the terms of a data sharing agreement.
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IPD from eligible studies will be shared with qualified researchers according to the criteria and process described on https://vivli.org/ourmember/takeda/ For approved requests, the researchers will be provided access to anonymized data (to respect patient privacy in line with applicable laws and regulations) and with information necessary to address the research objectives under the terms of a data sharing agreement.
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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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| Up to End of the study (approximately 6 months) |
| Erlangen |
| 91054 |
| Germany |
| Universitätsklinikum Giessen | Giessen | 35389 | Germany |
| 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 |