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Like a needle in a haystack: recruiting patients for a rare disease clinical trial

Like a needle in a haystack: recruiting patients for a rare disease clinical trial

Patient recruitment is the biggest challenge facing most clinical trials. It takes up 30% of the clinical timeline [1] and reports suggest 90% of clinical trials are delayed because of patient recruitment problems. [2]

These challenges are even greater for rare diseases such as alkaptonuria (AKU), due to the small number of patients and the lack of awareness in the medical world.

AKU was the first genetic disease to be discovered and causes severe early-onset osteoarthritis, heart disease and many other complications. Patients accumulate an acid called homogentisic acid at 2,000 times the normal rate. The acid attacks cartilage and bone, turning them black, which is why AKU is also known as Black Bone Disease.

Finding a cure for AKU has always been the main aim of the AKU Society. Thanks to funding from the European Commission, on 1 November 2012 we launched a series of clinical trials known as DevelopAKUre, coordinated by the Royal Liverpool University Hospital with the University of Liverpool as co-sponsor. The five year long programme will look at a promising drug called nitisinone. Our first trial is almost complete and aims to identify the best dose of the drug. Next up is a four-year trial which will test the effectiveness of nitisinone in treating AKU. Alongside these two clinical trials, we are also conducting a study to find out the age at which AKU damage begins.

Setting up the trials has not been easy with a maze of bureaucracy to negotiate. After a lot of hard work from the 13 DevelopAKUre partners, we found that our biggest challenge was still to come: finding and keeping patients interested in the trials.

1. Finding patients

We need to recruit at least 140 patients to provide enough evidence to make the trials a success. However, we only know of around 950 patients in the world and we are in direct contact with only a small proportion of those.

This small number of patients are scattered all over the world which brings both geographical and language barriers. The lack of awareness of AKU in the medical profession often means patients wait decades for a diagnosis or are misdiagnosed. Many younger patients have been wrongly told that it is impossible to have arthritis in their twenties or thirties.

Existing contacts such as our sister societies and specialists doctors have been a great help in finding patients but we didn’t stop there. Ultimately, our approach to finding patients has been to try every means available to contact them and their doctors. In the first few months of our project, we contacted hundreds of healthcare professionals including metabolic specialists, rheumatologists and nephrologists. We also contacted rare disease organisations across Europe, many of whom have publicised our trials on their websites, blogs and Facebook pages. To overcome the language barrier, we had information about the trials translated into many different European languages.

Our best resource is the internet.  Many patients found out about the trials through information on our own website ( or the DevelopAKUre microsite ( During the recruitment phase of our first clinical trial, we sent out a trial newsletter to 1,328 subscribers which resulted in 31 patient responses.

Social media has also been extremely useful in drumming up interest. The AKU Society has a strong presence on online communities, particularly Twitter, Facebook, PatientsLikeMe and RareConnect. These channels allow us to keep our patients informed about the clinical trials and they allow our patients to discuss the trials with us and other patients.

The team at RareConnect have helped us to hold two webinars about the trials. These online seminars have proved popular among our patients, with 22 patients attending. The recordings were made available online afterwards and these have been a useful recruitment tool too.

2. Keeping patients

Getting in touch with patients is definitely the first major hurdle, but the second is keeping them interested in the clinical trials.

We cannot stress enough the importance of building and maintaining strong relationships with our patients and their doctors. Two of our three trial sites have members of staff dedicated to patient recruitment and support. The third is currently in the middle of recruiting someone for this purpose.

We maintain regular one-on-one contact with patients and their doctors through email, phone and our social media networks. Our patients know they can email us any questions they have about the trial and we will try our best to answer them. We also liaise with the doctors in charge to answer the trickier questions we get.  

Where possible, we have arranged local patient meetings to meet patients face-to-face. We have already held successful patient meetings in Belgium, France and Germany and are planning meetings in Italy and the Netherlands.

We supplement our one-on-one contact with regular blog posts on the AKU Society blog and our DevelopAKUre microsite. Important progress updates are also posted on all of our social media outlets.

[1] Reinventing Patient Recruitment: Revolutionary Ideas for Clinical Trial Success, Joan F. Bachenheimer, Bonnie A. Brescia, Gower Publishing, 2007

[2] “Online recruitment is streamlining clinical trials” Datamonitor, July 2008


Hana Ayoob, Oliver Timmis and Nick Sireau of the AKU Society


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