Early Detection of Fabry Disease

Fabry Disease Clinical Trial

Official title:

Early Detection of Fabry Disease (FD): Using Real-World Data for the Development of Advanced Natural Language Processing Methods: Retrospective Database Analysis

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT05106764
• Other study ID #: TAK-675-4011-1
• Secondary ID: FLAGGING FD-1
• Status: Active, not recruiting
• Start date: November 30, 2023
• Est. completion date: April 30, 2024

Study information

• Verified date: January 2024
• Source: Takeda
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 50
• Est. completion date: April 30, 2024
• Est. primary completion date: April 30, 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion criteria:

• In-patient or out-patient datasets of the participating hospital in the last 10 years

• Participants at any age Positive controls: a subset of all participant hospital records that includes the participants with confirmed FD.

Related Conditions & MeSH terms

• Fabry Disease

Intervention

Other:
• No intervention
This is non-interventional study.

Locations

Country	Name	City	State
Germany	Universitätsklinikum Erlangen Kinder- und Jugendklinik	Erlangen
Germany	Universitätsklinikum Erlangen Neurologische Klinik	Erlangen
Germany	Universitätsmedizin Mainz Villa Metabolica Zentrum für Kinder- und Jugendmedizin	Mainz

Sponsors (1)

Lead Sponsor	Collaborator
Takeda

Country where clinical trial is conducted

Germany, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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)
Secondary	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.	Up to End of the study (approximately 6 months)

External Links

•   To obtain more information on the study, click here/on this link