Last week was the first World Orphan Drug Congress, held in Geneva. It brought together hundreds of participants from across the industry. I attended as one of the few representatives of a patient group. I was hugely impressed. It was inspiring to see how more and more companies – including big pharma – are entering the orphan disease space.
But first, let me explain a bit about myself. I’m the Chairman of the AKU Society, a medical foundation and patient group that seeks to find a cure to AKU (short for Alkaptonuria), which was the first metabolic disease ever identified, by Dr Garrod in 1901 in London. AKU is a genetic disease leading to an enzyme deficiency. This causes the accumulation of a substance called homogentisic acid at 2,000 times the normal rate. It’s a multi-system disorder, affecting the bones, joints, heart, lungs, eyes, ears, etc, although it’s most significant clinical manifestation is an extreme form of osteoarthritis.
Bones literally turn black, as does urine, in a process called ochronosis. Both my children have AKU, which is why I’m involved. More than 100 years since AKU was discovered, there still is no cure.
As far as I’m concerned, that’s a scandal. Even more scandalous is to see so many people suffering from the 7,000 rare diseases out there, and yet with no treatments in sight.
That’s why I was so inspired by the World Orphan Drug Congress. It was a fantastic opportunity to meet industry experts with a passion for rare diseases. In fact, we’re now speaking to several companies who are interested in exploring AKU further, and we’ve invited them to attend our international conference in Cambridge in January, where we will be discussing potential treatments and clinical trials.
I was particularly impressed by the talk from the head of global public policy of one of the big pharma companies. She explained how her company was investing significantly in rare diseases research because they realised that rare diseases offer excellent models for understanding common diseases. This is because a rare disease doesn’t have all the ‘noise’ that surrounds a common disease.
This is exactly what we’ve found with AKU. It’s an extreme form of osteoarthritis (OA). OA affects millions, yet there are no effective treatments. AKU, which affects people faster and more severely, offers a powerful model for understanding OA over a shorter timeframe and for testing new treatments. Our team in Liverpool is already making discoveries about AKU that are having implications for how we understand OA.
So it’s an exciting time to be involved in the rare disease space. It’s a growing market, with lots of opportunities for industry, scientists and – most importantly – patient groups. I’d recommend that all rare disease patient groups develop strong links with industry – that’s where the future lies.