We are recruiting patients with SAPHO and CNO into a cohort study, to learn more about how these diseases affect patients, which genetic markers are important and where patients are located in the UK.
SAPHO stands for synovitis, acne, pustulosis, hyperostosis and osteitis. For a patient, this means a combination of bone and joint inflammation and a skin rash that is like psoriasis or severe acne. Patients may not have all of these symptoms but, when present, they cause a lot of pain and poor quality of life. SAPHO is classified as a rare disease and is thought to affect 1 in 10,000 worldwide, mainly people from 20-40 years old.
CNO stands for Chronic Non-bacterial Osteomyelitis and results in bone inflammation that can look like a patient has a bone infection or bone cancer. It mainly affects children and causes them significant pain and impacts on their education, ability to socialise and general quality of life. It is thought that between 1 in 100,000 and 1 in 1,000,000 people are affected by CNO.
These conditions may be related but this is not clear and there are very few clinical trials of treatments in these patients.
Eloise is a 14 year old girl. She has a rare disease that causes bone and joint inflammation, swelling, stiffness and pain. The name of the disease doesn’t matter, but the impact it has on Eloise does.
On the 27th February 2017, Eloise’s mother was attending an open night organised by the Cambridge Rare Disease Network in conjunction with the NIHR Rare Diseases Translational Research Collaboration. The meeting was convened to celebrate the 10th anniversary of Rare Disease Day and to connect patients with scientists and doctors who care for patients with rare diseases.
Eloise’s mother asked how she could inspire researchers to work on her daughter’s disease. The answer was to find people working in the field and meet with them. During the networking session, she met Jagtar Singh Nijjar, a clinical lecturer and rheumatology trainee working in the Department of Medicine. Given that Eloise’s disease affects her joints, Jagtar was the right person to meet. The result of their discussions has been the creation of the first national cohort that will recruit people with SAPHO and CNO, the disease that Eloise has.
The ImPaHCS cohort will allow Jagtar and his colleagues to understand more about the clinical and genetic basis of the disease. In addition, by gathering patients together, we will provide a framework in which clinical trials can be run to generate evidence that may inform the care of patients with rare diseases.
None of this would have been possible without a chance meeting between a mother who wanted care for her daughter, and a clinical researcher with an interest in the disease.
Understanding where patients are located in the UK is one of our aims, and we are working towards multiple sites.
- Great Ormond Street Hospital, London
- Kings College London
- University College London
- Royal National Orthopaedic Hospital, Stanmore
Please let us know if you’re interested in participating or you’d simply like more information about our study.