Deciphering CRMO in paediatrics one cell at a time

  • Research type

    Research Study

  • Full title

    Deciphering paediatric non-monogenic systemic autoinflammatory conditions one cell at a time

  • IRAS ID

    338848

  • Contact name

    Sarah Teichmann

  • Contact email

    sat1003@cam.ac.uk

  • Sponsor organisation

    Cambridge University Hospitals NHS Foundation Trust & University of Cambridge

  • Duration of Study in the UK

    2 years, 11 months, 31 days

  • Research summary

    Rare paediatric inflammatory conditions caused by single gene changes have been studied extensively to date. However, there is a distinct lack of research on their polygenic counterparts, where disease can occur after multiple gene changes or due to currently undefined environmental effects.

    In this study we will focus on the condition chronic recurrent multifocal osteomyelitis (CRMO). CRMO is a disease where the patients’ immune system attacks their bones by mistake (autoinflammation), causing bone pain and swelling. The cause of CRMO remains poorly understood and therefore makes it difficult to diagnose. Currently, it is diagnosed by excluding other conditions first and involves invasive procedures, leading to delays in diagnosis and treatment.

    This study will use 3 different types of cutting-edge single-cell technologies to look at individual cells in diseased tissues (bone and blood); the results of which will construct a detailed map of what these cells are and how they interact. A profile of the diseased bone and blood will be compared to control bone and blood. This will identify potential underlying causes of CRMO, enabling discovery of tests for diagnosis and ways to monitor the disease. These deep insights will in turn pave the way for development of future treatments based on an understanding on how the cells work and interact in the process of autoinflammation.

  • REC name

    East Midlands - Nottingham 2 Research Ethics Committee

  • REC reference

    24/EM/0048

  • Date of REC Opinion

    14 May 2024

  • REC opinion

    Further Information Favourable Opinion