Cambridge BioResource needs your help to cure rare diseases

How Eloise Cutbush is helping develop new treatments at Addenbrooke's

When it comes to developing new drugs, many pharma firms use laboratories, and patients have to wait for trials to conclude, which can take years. Meanwhile, patients are kept waiting – and with 95 per cent of rare diseases not having any approved treatment, the wait can be too long for many. But help is at hand.

One mother’s drive to find out more about her daughter’s rare inflammatory bone disease has led to a national project spearheaded by Cambridge-based researchers. Eloise Cutbush is 14 and has CNO (chronic non-bacterial osteomyelitis), a condition that causes bone pain throughout her body, difficulty with moving and a reduced quality of life. Eloise says that her condition is “horrible, annoying and repetitive”.

“I find it hard to understand,” she says. “It’s always there and it’s unpredictable. It interferes with my every day life.”

“It is incredibly hard at times,” says her mother Melica. “It’s a balancing act trying to ensure that my husband and I meet all her needs while juggling a normal family life, work and the needs of our son.”

Eloise is currently cared for by Dr Kate Armon, along with the wider Cambridge University Hospital’s paediatric rheumatology team.

Melica says: “Dr Armon and Dr Bale have been fantastic, as have Cathy Slynn, rheumatology nurse specialist, and Dr Nik Johnson from Hinchingbrooke Hospital.”

“The challenge for children and young people is that it is painful and there is no easy ‘cure’ for CNO,” says Dr Kate Armon. “We treat the symptoms and I hope we are getting better at this, but a cure is not available and we wait for the body to heal itself, which may take many years, with regular relapses. Young people struggle, going from fit healthy people participating in all activities to frequent bouts of severe pain, immobility, fevers and feeling generally unwell. Clearly this impacts on their education, family life and hobbies significantly.”

A cure for this debilitating illness has to be found and, to achieve this, researchers need to formulate answers to basic scientific questions. This is where Dr Jagtar Singh Nijjar was able to step in and use his expertise to help. Jagtar first met Eloise’s mother, Melica, at a public event on rare diseases last year. She was in the audience and asked a simple question about how she could encourage researchers to study her daughter’s illness. By coincidence Jagtar, who was in the audience, works in the Department of Medicine at Addenbrooke’s and specialises in rheumatology.

To find out how Eloise is taking part in research, I met with Jagtar and his colleague Dr Andy Thompson, whose work involves promoting the public’s interest in immune regulation, autoimmune disease and infection. Together, they are trying to raise awareness of Eloise’s illness because they need more people to come forward to participate in a study Jagtar is conducting.

“Eloise has a rare inflammatory bone disease, CNO, which is thought to affect one in 100,000 people,” says Jagtar. “CNO tends to affect the long bones of the arms and legs but may be related to another condition called SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis). SAPHO is a combination of bone, joint and skin inflammation meaning that patients often have severe pain of their breastbone and collarbone joints along with a rash such as acne or psoriasis,” explains Jagtar. “SAPHO affects adults and is more common than CNO as it affects one in 10,000 people.

“However, we do not know whether the causes of these two diseases are the same, even though the symptoms are similar.”

The question that Melica asked has inspired a study that is now in the process of recruiting patients to the NIHR Cambridge BioResource, which can happen via hospital referrals, or by a patient directly contacting the organisation.

“For the first time in the UK, we are recruiting patients with CNO and SAPHO to a national patient registry,” says Jagtar. “This allows us to understand more about the cause of the disease, but importantly, also how it affects patients.”

When patients are recruited into the NIHR BioResource, they have blood taken for genetic analysis and, crucially, they can be contacted for future studies.

“We need to register at least 400 patients with CNO and SAPHO over the next three years, which will enable us to better understand the illness at a genetic, molecular and therapeutic level,” says Dr Thompson.

Dr Ken Poole, a reader in metabolic bone disease at the University of Cambridge, added: “Because of recent advances in treating common diseases such as rheumatoid arthritis, pharmaceutical firms may already have the drugs to treat rare diseases such as CNO and SAPHO, but lack the large groups of patients to test the drugs in. That’s why the NIHR BioResource study is so critical.”

“By working with NIHR BioResource, we are able to gather the patients together and so make clinical trials a little easier,” says Jagtar.

The impact of rare diseases is such that in the UK there are estimated to be 3.5 million people living with them and on average patients wait four years before they are diagnosed. rare diseases affect children and three out of five younger sufferers report that their education has suffered.

Melica says: “This research is critical to raise awareness of rare diseases, improve communication between doctors/hospitals and to show the power that parents have by speaking up and asking questions.”

Eloise summarises her reasons for taking part simply: “I want to help others and find out more about my disease.”

Eloise and other patients with rare inflammatory bone diseases can look to a future in which research has been conducted to understand more about their illnesses.

The study that Jagtar and Andy are co-ordinating is called ImPaHCS – Improving Patient Health in CNO and SAPHO.

If you would like to know more about CNO, SAPHO and recruitment to the study, email nbr@bioresource.nihr.ac.uk or go to bioresource.nihr.ac.uk.

Some additional facts about NIHR BioResource:

1. The NIHR BioResource for Translational Research in Common and Rare Diseases is a panel of around 100,000 volunteers nationally who are willing to be approached to take part in research. The aim is to have 200,000 extra people signed up to the NIHR BioResouce by 2022. The aim of the NIHR BioResource is to be able to speed up the process of finding a particular cohort the research requires, therefore speeding up the study.

2.Volunteers can be anyone with or without a health condition, who are willing to be approached to participate in research studies investigating the links between genes, the environment, health and disease.

3. Volunteers donate their DNA via a blood sample or saliva and complete a health questionnaire to better match them to specific research studies.

The volunteers sample and data is turned into a unique ID number so the research team won’t see the volunteers personal data or know who they are.

Researchers approach the NIHR BioResource and request samples based on genotype and/or phenotype and data that matches the study criteria for their research

4. Volunteers will only be invited to a maximum of 4 times a year to a study if they match the study criteria. Volunteers can also take part in a study without doing anything, the researchers can just look at the blood they have donated if that is all they need for their study.

5. What a volunteer has to do on a study is varied, but most common participation requests are answering a questionnaire, giving height and weight measurements or providing another blood sample.

6. The NIHR BioResource are supporting more research in rare diseases and the target of recruiting into a minimum of 100 rare diseases.

7. Inflammatory Bowel Disease has 13,000 patients to date with the aim of 25,000 patients.

8. A Mental Health BioResource with the aim to recruit 40,000 patients is to be launched in September 2018.