How to move towards a clinical trial for your rare disease

Most rare disease patient groups have two objectives: supporting their patients, and finding a cure. All the rest – the fundraising, the conferences, the workshops, the partnerships, the lobbying, the media work – should be focused on achieving those two aims.

So, how do you go about finding a cure?

First, you need a science programme. Without understanding the fundamentals about your disease, you don’t stand much chance at finding an effective treatment. That’s why many patient groups have good relationships with universities and hospitals. They raise funds and invest this into basic and clinical science research.

A small amount of money can go a long way. The first £2,000 I raised from running a sponsored half-marathon was used to fund the autopsy of an AKU patient who had donated her body to science. The results were published in the journal Histopathology under the title ‘Alkaptonuria – a review of surgical and autopsy pathology‘ and kickstarted our research programme in Liverpool.

We then raised £31,500 from the Foyle Foundation, which we used to hire an excellent PhD student, Adam Taylor, who is presenting his PhD in May this year and who we plan to keep on board as a post-doc researcher.

Thanks to all this work, we then raised £500,000 from the Big Lottery Fund for the development of an animal model of AKU, under the leadership of Dr Jonathan Jarvis and Dr Andrew Preston. This is ongoing, with promising results that are helping us understand better the mechanics of AKU.

Second, you need a clinical research programme. Do you know how your disease affects your patients? Your patients probably know, but do you have a consistent, scientific body of data about this?

We carried out a study of 15 AKU patients over three years thanks to funding from the Childwick Trust. Dr Ranganath, our medical director, led the study, which consisted of a battery of tests – MRI scans, X-rays, blood and urine tests, etc – to figure out exactly how AKU affects our patients. This gave us excellent knowledge that is helping us design our clinical trials.

Which takes me to the third point: clinical trials. Your basic and clinical science should have helped you identify potential treatments. The next step is to find out whether these treatments work. And that’s when you enter the complicated, expensive and difficult world of clinical trials.

You can do a clinical trial through a university or hospital group. You can get funding from the European Commission, the FDA’s orphan drug grant programme, or national funding bodies such as the Medical Research Council in the UK.

However, because of the sums involved in running clinical trials, it’s highly likely you’ll need to find a corporate sponsor: a company that will partner with you to design, run and analyse the trial. A key part of this will be going through the regulatory system to get the treatment licensed if the trial is successful.

Have you approached any potential companies? Do you know where to find them? If not, I suggest you try going to some of the orphan drug conferences that are springing up, such as the World Orphan Drug Congress or the World Orphan Drug Summit. Go there, meet the companies, tell them about your disease, and generate interest.

It’s the only way you’ll succeed.