Study identification

EU PAS number

EUPAS1000000164

Study ID

1000000164

Official title and acronym

OPCRD ADEPT application Study Protocol

DARWIN EU® study

No

Study countries

United Kingdom

Study description

Rare diseases are individually uncommon, affecting less than 1 person in 2000, however with more than 6,000 diseases they are collectively common. A feature shared by many rare diseases is a long path to diagnosis, typically measured in years or even decades. During this ‘diagnostic odyssey’ patients experience the many challenges of not having an accurate diagnosis; repeated investigations and referrals; a lack of explanation for their problems, and a lack of expert care and/or treatments. Further, until a diagnosis is made, affected individuals cannot benefit from the support of patient advocacy groups.
MendelScan is a rare disease case finding tool that uses patients’ GP records to identify patterns that suggest they may have an undiagnosed rare disease. Identified patient records are then reviewed and a targeted report returned to their GP for suggested next steps included. In this study we will use patients’ GP records in the large primary care research database, OPCRD, to examine the performance of MendelScan for a range of diseases and use the database to support the development of other rare disease detection tools.

Study status

Finalised
Research institutions and networks

Institutions

Mendelian

Contact details

Hadley Mahon

Primary lead investigator

Study timelines

Date when funding contract was signed

Planned:
Actual:

Study start date

Planned:
Actual:

Data analysis start date

Planned:
Actual:

Date of final study report

Planned:
Actual:
Regulatory

Was the study required by a regulatory body?

No

Is the study required by a Risk Management Plan (RMP)?

Not applicable