Detecting signs of Fabry and Pompe disease in UK clinical data

Volv, working with Sanofi, Optimum Patient Care, and collaborating with a specialist Consultant Clinician, is performing work to build algorithms in the UK which are aimed at finding ways to better identify people living with Fabry or Pompe disease.

This novel and innovative methodology, inTrigue, is highlighting ways in which we can be much more precise in detecting people living with either disease much earlier.

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inTrigue: helping people living with disease get better outcomes

In the sections below you will find an overview of how we create models to help predict which people might be at risk of disease, some of the current performance metrics, and also some background information on both Fabry and Pompe disease.

By using the inTrigue methodology in collaboration with Optimum Patient Care (OPC) in the UK and the OPC Research Database and working with Sanofi, we are learning novel patterns of disease, we do this because using published medical criteria does not help find the patients that remain undiagnosed and in fact highlights many more patients that do not in fact have disease (false positives).

The inTrigue approach looks for people that cannot be found using those methods. inTrigue is designed to help clinicians detect the people who are living with a rare or difficult-to-diagnose disease and help uncover those people who are therefore otherwise unlikely to get a diagnosis.

This is a completely different level of performance that promises to reduce the time to a diagnosis, and also importantly, uncover the undiagnosed patients.

Detecting Fabry and Pompe Disease and some early metrics

Volv, working with Sanofi, and leveraging the data and expertise of Optimum Patient Care in the UK, is creating a unique collaboration that does not stop here.

Background into Fabry disease and resources

Fabry disease is closely related to mucopolysaccharidoses and is one of the lysosomal storage diseases. Read more here...

Background into Pompe disease and resources

Pompe disease is a disorder of the metabolism first described in 1932 by Dr J C Pompe. Read more here...