We had a great day for rare diseases and AKU on Thursday, which showed us how important it is for rare disease groups to get out there and speak to industry.
The Economist Conferences invited me to do a 30 minute presentation of the AKU story and the world of orphan diseases to 200 top executives from the pharma industry at its Economist Pharma Summit at a glittering hotel in Mayfair, London. I had the slot right after lunch, just when most people are dozing off and digesting, so I thought I’d hit them hard with a strong presentation on the urgency for finding cures to all these devastating rare diseases, using AKU as a case study.
I think it worked. I didn’t see anyone dozing off, and got positive feedback afterwards from participants ranging from senior executives of big pharma companies, who expressed a strong interest in collaboration, to news media and smaller businesses involved in healthcare. Now we’re following up these contacts as there’s always a huge gap between an expression of interest and actually delivering a real programme of research and a treatment.
So if you’re a rare disease group, then get out there. Speak to people. Go to conferences. Present your work. There aren’t enough of us interacting with industry and showing them how important patients are to the whole process.
The buzz from the Economist event has helped us overcome a number of disappointments on the fundraising front – testimony to how tough the fundraising environment has got for rare disease groups. We’ve just received seven rejections from major trusts and foundations over the past two weeks and one success (from Awards for All, the small fund that’s part of the Big Lottery Fund).
I’m pretty fed up with the world of most funding institutions – they’re dinosaurs, with long bureaucratic processes, endless forms to fill in, and anonymous committees who make decisions for funding without having much of a clue what they’re doing. If only they realised the burden of work they put on charities, which are forced to compete through ineffective processes for constantly smaller pots of funding.
I wish more funders would listen to the likes of New Philanthropy Capital, the think tank that is trying to get foundations to rethink their funding processes and strategies. They need to cut down on the bureaucracy and the form filling and really go out there to meet the social entrepreneurs who are making a big difference to their communities.
I’m pleased to say that the presentation slides from our speakers at the recent international AKU conference in Cambridge are now available for download here: http://www.alkaptonuria.info/en/news_85.php. I think you’ll be impressed by the content – all very high quality science.
We haven’t published all the presentations as some of the data is still confidential. It’ll all be published soon in prestigious academic journals, including the Journal of Inherited Metabolic Disorders, but until then, we can’t publish it elsewhere.
Our experience is that holding an annual scientific meeting is crucial for any rare disease group. It’s where all the best minds get together, share ideas, and come away invigorated.
World Rare Disease Day takes place this year on 28 February. The US National Organisation of Rare Diseases has made tools available to all Rare Disease Day Partners. You may download these and use them to support the World Rare Disease Day global goal of raising awareness of rare diseases as a public health issue.
- Countdown device that counts the seconds, minutes, hours and days to Rare Disease Day 2011
- Rare Disease Day 2011 Press Kit and Logo
- Global Rare Disease Day 2011 Poster
Suggestions for Individuals
- Become a Rare Disease Day Ambassador (View current list)
- Tell your story
- Create a video for the Video Library project (this will be activated very soon)
- Support the Write Your Rep campaign
- Write a blog or email your friends and family members
- Organize a display at a local school or hospital
- Buy Rare Disease Day merchandise, such as t-shirts and mugs, to help make people aware of the day
- Watch the state-by-state listing, soon to be on the Rare Disease Day US website, and reach out to others planning events near you
- Use Facebook and Twitter to raise awareness for Rare Diseae Day
- Reach out to the media in your community to educate people about your disease of interest and rare diseases in general, using information from the press kit
We’ve just finished our fourth international conference on AKU (Alkaptonuria), here in Cambridge. It was a huge success, although it raised, once again, the questions we face as we work to find treatments for rare diseases.
Sixty scientists, industry representatives, patients and relatives attended, including from the US, Slovakia, Jordan, France, Italy, the UK, the Netherlands, Sweden and Germany. We had 100% turn-out, which showed just how committed everyone is to finding a cure to AKU.
The quality of presentations from world leaders on AKU was outstanding – we’ll be putting up slides from the presentations on our website shortly. Discussions ranged from the latest advances in our basic science research that are increasingly showing the links between AKU and osteoarthritis, to a debate over how to design a new clinical trial of Nitisinone, the drug we all believe can treat AKU.
Our challenge is that AKU takes years to become symptomatic and that it affects each patient differently. Hence it’s hard to find the right age at which to start a trial, for how long, and to measure it. Our Medical Director, Dr L Ranganath, has developed a disease severity score index that we believe will significantly help resolve some of these issues.
On the timeframe, it looks like we may be needing a longer term study of Nitisinone in order to detect benefit on patients. We will work across centres in order to reach enough patients, which is why the involvement of Slovakia and Jordan, where patient numbers are high, is important. A key challenge will be raising funds for such a study as few funders think beyond three to four years.
Nevertheless, I’m convinced it is possible, and we’re already making promising progress in the right direction. Where there’s a will, there’s always a way, as the rare disease community shows time and again.
Just two weeks to go until the fourth international AKU workshop takes place in Cambridge, UK. We’re really excited as it promises to be an excellent event. We already have more than 55 of the world’s leading scientists on rare diseases, genetics, metabolic disorders, bone diseases and clinical science who have signed up.
The speakers list is also impressive, covering the whole spectrum of topics relating to AKU and with participants from around the world. For instance, we have a clinician attending from Jordan, where he’s identified 40 AKU patients, including nine in a single family.
This promises to be a turning point for AKU. Indeed, collaboration on an international scale is a key success factor for finding an effective cure for a rare disease. Nobody can succeed by working in isolation. That’s why it’s been wonderful to see our workshops increase in size each year, with new discoveries being presented each time.
Download the latest programme here: Workshop Programme Final 20 Dec. If you’re interested in attending, ping me an email on firstname.lastname@example.org by 3 January.
I’m just back from the Partnering for Cures conference in New York (www.partneringforcures.org), where we were presenting our international findAKUre project on Alkaptonuria and trying to raise funds for our plans for new clinical trials for treatments. (You can download our presentation here: http://www.partneringforcures.org/2010_innovators/18_findAKUre.html).
The conference, organised by the Faster Cures action tank, was impressive. It brought together more than 650 participants from a wide range of sectors: non-profit foundations, businesses, patient groups, pharma companies, biotech companies, philanthropists, the FDA, the NIH, journalists and a host of others. It was a wonderful mix of people: lots of energy and commitment to finding cures to untreated conditions.
Discussions centred around how to accelerate the drug discovery process. How do you foster greater innovation in a context that values safety and avoids risk? How do you find the funding needed for drug discovery that can take years? What are the new business models that can bring about successful new drugs?
There weren’t any clear answers. In fact, at times the debate was rather downbeat. Many people said the system is broken: regulatory approval takes too long, drug discovery is too haphazard, the risk of lawsuits is too high.
That’s why some people pointed to rare diseases as a sector of hope and opportunity: massively underfunded but with huge potential for significant breakthroughs. It was good to see a growing recognition that research into rare diseases also has major implications for understanding common disorders.
I came away inspired by the people I met, but seriously aware about how much still needs to be achieved for the rare disease sector. I was expecting much more US foundations and philanthropists to be interested in rare diseases, yet found very few. I met a number of hard working US-based rare disease groups who are struggling for funds to finance potentially life-saving research programmes and clinical trials.
Then there’s the millions of people affected by rare diseases in developing countries. Very little is being done to help them. I once spoke to a leading scientist in global health who says nothing should be done about rare diseases in poor countries: the focus should be on common diseases, he says.
I’m not sure I agree with him. Even though most rare diseases don’t have treatments, that’s not a reason to abandon rare disease patients to their fate, wherever they may be. A programme to identify rare disease patients in specific developing countries would take many years to implement, by which time more affordable treatments could be available for them.
So the battle for rare diseases is far from over. I come back to the UK convinced that we need to put even more effort and resources into this sector – for the sake of everyone affected by rare diseases.
I’m just on my way back from Geneva, where I attended the three-day World Orphan Drug Congress. I’m going back to London by coach as my flights kept on getting cancelled because of the snow. But it was worth it.
The programme covered everything from designing successful clinical trials, the regulatory environment, working with patient groups, marketing products, case studies of success stories, the future for orphan drugs, to national plans on rare diseases.
This is crucial for us as we embark on designing clinical trials to treat AKU. The key message that everyone told me is that we need to involve the following actors:
- The regulator: a major factor of failure in clinical trials is involving the regulator too late – and not being able to include their feedback into the design of the trial. Hence, we need to arrange a meeting with the European Medicines Agency as soon as possible. Fortunately, I met a key member of the EMA at the EURORDIS conference in Poland earlier this year.
- A CRO: these are companies that specialise in designing trials and getting regulatory approval. I wasn’t aware until now just how important the regulatory aspect is. A good CRO can help.
- An orphan drug company: they need to be involved from the start in designing clinical trials, or else they won’t want to support it. We’re speaking to key players in the biotech industry to see whether they will get involved as full partners. Fingers crossed…
It was really encouraging to see how interest in rare diseases is growing fast among the medical industry. I’m hopeful this will reap significant benefits, not just for AKU, but for all rare diseases.
We’re really thrilled to have been selected to present to the Partnering for Cures conference in New York in December. Check it out here: http://www.partneringforcures.org/. Partnering for Cures is run by the organisation Faster Cures, which seeks to accelerate the medical research process. I’ve always admired Faster Cures. I love their mix of entrepreneurial business approaches with the desire to make a significant difference to the lives of patients.
The conference will bring together hundreds of the world’s top medical experts, philanthropists, industry specialists and government officials to ‘bridge the gap between microscope and marketplace’.
I’ll be presenting with Dr Ranganath, the Medical Director of the AKU Society and a Consultant in Metabolic Medicine at the Royal Liverpool University Hospital. Ranga, as we call him, is one of the best science communicators I’ve ever met. He can explain the most complex concepts in a way most people can easily understand. Without his involvement in AKU, we wouldn’t have achieved most of what we’ve managed to do over the past seven years since Robert Gregory, the key AKU patient behind this whole movement, convinced him to join the effort.
We’ll be joined by Sudhish Pai, the father of a young boy with AKU, who lives in Toronto, Canada. Sudhish is driving down to New York especially to join us at the conference. Sudhish is spearheading the AKU movement in North America, so his input will be invaluable.
We’re hoping that the conference will be a good opportunity to meet potential partners and convince lots of people that finding a cure to AKU will have ramifications that go far beyond this particular disease.