Detecting signs of Fabry and Pompe disease in UK clinical data

Volv, supported by Sanofi, and working with Optimum Patient Care, and collaborating with a specialist Consultant Clinician, is performing research 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.

Are you a Fabry or Pompe specialist in the UK and want to know more, or collaborate? Please contact us.

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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 supported by 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.

Importantly, this is a research project that
- focusses on a limited population at first
- works with a population of clinicians that have signed up for the OPC quality improvement (QI) programme to improve the quality of care for patients in general practice
- aims to use the feedback from clinicians to improve the approach

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

OPC quality improvement (QI) programme:

Detecting Fabry and Pompe Disease and some early metrics

Volv, supported by Sanofi, and leveraging the data from 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...