RNA phenotyping in SAPHO/CNO/CRMO inflammatory conditions

Study code

Lead researcher
Judith Bubbear

Study type
Participant re-contact

Institution or company
Royal National Orthopaedic Hospital

Researcher type

Speciality area
Musculoskeletal Disorders, Genomics and Rare Diseases


SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome is a rare inflammatory bone disease that affects one in ten thousand individuals with peak onset between 20-50 years old. Currently there is no diagnostic test or approved treatment for these patients and although the disease is not life threatening, it significantly affects quality-of-life for both the patient and their family.

SAPHO may be linked to another disease referred to as CNO or CRMO (chronic non-bacterial osteomyelitis / chronic recurrent multifocal osteomyelitis) that affects children and young adults. Both conditions have variable onsets and clinical features which makes studying them challenging.

In this specific study, patients with SAPHO/CRMO/CNO, who are already recruited into the SAPHO: Synovitis, Acne, Pustulosis, Hyperostosis & Osteitis Syndrome (SAP) BioResource cohort, will be asked to give an additional blood sample allowing us to analyse the genetic code in a number of different types of immune cells that may be involved in causing the disease. We hope that this will shed light on the possible cause of these conditions and therefore help to improve treatments.

This study is part of our Rare Diseases RNA Phenotyping Project. Each participating study in the project is included in a collection hosted on our main studies page.