At the end of April, Nick was in the USA attending the World Orphan Drug Congress. In today’s blog he tells us why he attended the event, and what he learnt from his time there.

I’m just back from the World Orphan Drug Congress USA in Washington DC, where I was presenting the latest developments in the world of AKU.


The World Orphan Drug Congress is a key conference for the orphan drug industry and a great place to connect with companies that might be interested in researching AKU. Indeed, it was five years ago at the World Orphan Drug Congress Europe when I met the leaders of pharma company Sobi – a meeting that began a relationship that continues today. Sobi is now a leading member of our DevelopAKUre consortium carrying out clinical trials into the use of nitisinone for AKU.

It was on this theme I was speaking this time too: the DevelopAKUre clinical development programme. I gave multiple examples of how our clinical trials are progressing well. For instance, a couple of months ago we reached our target for patient recruitment: 138 patients enrolled (our target was to recruit a minimum of 125 and a maximum of 140).

This came as a surprise to the industry experts in the audience. Most clinical trials struggle to recruit enough patients, especially in the world of rare diseases where patients are so hard to find. The fact we recruited all our patients within a nine month window surprised them even more.

Yet, as I explained, this was the result of hard work, strong collaboration and strategic thinking. We’d been preparing ourselves for the clinical trial for at least three years, helping AKU patients to set up their own AKU Societies in countries across Europe. They were a crucial source of support for recruiting patients.

We also carried out media campaigns in the UK, France, Italy and Poland in order to raise awareness about AKU, which led to the identification of several patients. We contacted 7,000 doctors’ surgeries across the EU through fax and email campaigns. We visited all the key scientific conferences – such as that of the Society for the Study of Inborn Errors of Metabolism – in order to meet physicians who might have AKU patients.

I also explained how we’d successfully carried out a smaller, dose-ranging study (a ‘phase 2 study’, in pharma speak) two years ago which allowed us to choose a dose of nitisinone to use in the larger, phase 3 study that began last year. This larger study will last four years and, we hope, will show positive trends in the evolution of the disease.

The World Orphan Drug Congress was also an opportunity to hear how other patient groups are doing. For instance, Dr Matt Might told the story of his son’s rare disease, NGLY1, which is also recounted very effectively in his blog post ‘Hunting down my son’s killer’.

Several patient groups raised the issue of fundraising, which most of us find challenging. Indeed, raising funds for rare diseases has always been difficult, although crowdfunding and initiatives such as the EU’s rare disease calls are offering new opportunities.

Nevertheless, I came away with the positive impression that patient groups are a driving force in the rare disease sector, and industry is starting to take them seriously.