Patients with three different types of periodic fever conditions took part in the study: familial Mediterranean fever, mevalonate kinase deficiency (also known as the hyperimmunoglobulinemia D syndrome), and tumour necrosis factor receptor–associated periodic syndrome (TRAPS). All these conditions lead to the immune system becoming overactive which results in frequent episodes of fever called ‘flares’ as well as joint and skin problems. The flares that can last several days or even weeks and significantly impact quality of life, with long term risk of organ failure or even death if not treated.
181 children and adults with one of the three periodic fever conditions took part in the study and were given injections of canakinumab or placebo every four weeks. The study showed that significantly more patients given canakinumab had a complete response of no flares at all during the 16 weeks of treatment. Most of these patients had still not had a disease flare after 40 weeks. Patients who did not have a complete response to canakinumab had less severe and less frequent fever episodes than those given placebo.
The results, which were published in the New England Journal of Medicine, are particularly significant as there were previously no proven therapies available for either TRAPS or mevalonate kinase deficiency, and limited options for colchicine-resistant familial Mediterranean fever.
GOSH patients on the trial were treated at the National Institute for Health Research (NIHR) GOSH Clinical Research Facility.
Phoebe and Fenella’s story, told by their mum Fiona
"About a month after Phoebe was born she started getting rashes on her legs. Everyone thought it was a heat rash so I put her in a vest to cool her off. By the time she was four months old she started to getting really high fevers and being sick. We tried various things but nothing worked and periodically, every four weeks or so, she’d be poorly again.
Eventually, after years and years of back and forth to local doctors and consultants, we got the diagnosis of mevalonate kinase deficiency (MKD). By this point I had had Fenella and although she was well for longer than Phoebe, eventually she started experiencing the same symptoms as her sister and we found out she had MKD too.
At this point both girls were referred to Professor Paul Brogan at GOSH and starting having injections every day. These worked for a while but they still had very poor attendance at school and Fenella had to have a tutor that came to the house. It was in 2015 that Professor Brogan offered us the chance to be involved in the clinical trial for canakinumab at the GOSH Clinical Research Facility. At first I said no but at the eleventh hour we flew back from holiday early and signed up.
The drug has changed the girls’ lives massively in that now they actually have a life. Both girls love horse-riding and now Fenella’s school attendance is 78% and Phoebe’s is 94%. Now that Phoebe’s not so poorly she is able to go to her drama club every week so she’s been able to get better parts in the plays. Next month she’s appearing in Bugsy Malone. It’s so nice that we are able to plan ahead. Previously we weren’t able to plan anything like a birthday party or a holiday as the excitement of looking forward to anything would bring on a flare.
The trial has been amazing for us. We don’t know what the long term outcome will be but at the moment it’s doing a great job for us. It has given them back a quality of life that I don’t think they would have had otherwise."