Why rare disease groups need to build an international presence

The Italian AKU Society has just launched its website. It looks fantastic: http://www.aimaku.it/.

It made me think of how important it is to grow internationally if you’re a rare disease patient group. The AKU Society now has registered charities in the UK, France, Italy, the US and Canada, and (at some point soon) in Slovakia and Germany. We’re also looking into setting up a European AKU Federation and registering with the European Medicines Agency, which would give us added credibility.

So why are we doing this?

1. To help the patients: rare disease patients are spread around the globe. They need a formal structure in their own country that will lobby for them, support them, and lead them into the right care.

2. We need them to help find treatments: by their very nature, rare disease patients are isolated and often thinly spread out. Focusing only on one country means reaching only a few patients. If we want to do clinical trials, we need to identify more patients and recruit them into our movement.

3. There’s strength in numbers: a global movement, representing thousands of patients, has a bigger chance of being heard. As you’ll have seem from my post yesterday, unpopular diseases rarely get funded if there’s no awareness about them.

4. For exchange of information: we’re building a critical mass of patients that can share information with each other about their disease. That’s why we’ve joined with EURORDIS’s Online Communities project, where patients meet online in a special community on AKU. The more patients share information about their disease, the higher chance we have of developing effective treatments.

5. For raising funds: raising funding for a rare disease is always a challenge. That’s why we need patients and their relatives to club together and get fundraising. You need formal charities set up in each country to receive the funds, obtain tax reductions on donations, and motivate the fundraisers.

So my advice to you is to make contact with rare disease patients in other countries and get them mobilised.

How to set up a patient group in North America

The USA has for decades been at the forefront of the rare disease movement, particularly since the voting of the Orphan Drug Act in 1983, which provided all kinds of incentives for industry to invest in rare disease treatments. Canada, however, has been lagging far behind – not even having a legal definition of what constitutes a rare disease – and is only just starting to catch up.

We realised early on in our work that we needed to set up a formal AKU patient group in North America. We wanted to be closer to the research being carried out on AKU at the National Institutes of Health under Dr William Gahl and Dr Wendy Introne. We wanted to have easier access to US funding from individuals, trusts, companies and government. And, most importantly, we wanted a legal vehicle that would bring together all our North American patients – more than 100 of them – and empower them to action.

Here’s our advice in case you want to do the same for your rare disease patient group:

1. Find pro bono legal advisors. We’re very fortunate to have enlisted the support of White & Case, a leading global legal firm, to help us with the legal issues involved in setting up a formal charity in the USA. Many US legal firms offer pro bono programmes to charities, providing the same level of service as they do to their commercial clients. I’ve been hugely impressed, as without the help of White & Case, we’d have never been able to go ahead with registering in the USA.

2. Set up as a 501(c)(3). This is the legal status for non-profits in the USA, obtained after filing a form with the Inland Revenue Service (IRS). It provides tax exemption and allows you to start fundraising from the public.

3. Recruit a board of directors and officers. You’ll need a president, a secretary and a treasurer. It’s best if the majority of your directors/officers are US citizens. As the AKU Society North America was being initially set up by the AKU Society UK, we agreed that it would be led, at least for its first six to 12 months, by myself as president in order to help set up the systems and processes. Our secretary is Denise Higgins, an American AKU patient and founder of a biotech company in San Diego. Our treasurer is Sabrina Drake, also an AKU patient with excellent PR and marketing skills.

We decided that the organisation would cover the US and Canada (because of the added complexity of setting up a separate organisation in Canada, which we don’t want to do at the moment), so we invited Sudhish Pai, father of an AKU patient from Toronto, to join as a director. We kept the board deliberately small – four of us to start – as large boards, particularly in the early stages of an organisation, are hard to manage.

4. Recruit trusted advisors. It’s crucial to build your credibility from the start. That’s why we recruited two outstanding individuals to act as advisors on a voluntary basis. Dr Wendy Introne from the National Institutes of Health is a leading global expert on AKU, having overseen clinical trials for AKU and with direct access to more than 100 AKU patients. Wendy advises us on medical issues for AKU.

Dr Emil Kakkis is our regulatory advisor. He’s a pediatrician known for his long-standing work on ultra rare diseases. He’s also President and Founder of the Kakkis EveryLife Foundation and Chief Executive Officer and President at Ultragenyx Pharmaceutical Inc. Emil is providing us with advice on an informal basis and has already started helping us make significant progress in the USA.

5. Make yourself known. There’s no point setting up an organisation that nobody ever hears about. That’s why we’ve already started our activities in the USA and Canada, starting with today – Rare Diseases Day. We’re participating in a range of activities to promote AKU and raise awareness about rare diseases. Denise kicked this off with a video on YouTube about how AKU affects her life: http://www.youtube.com/watch?v=Ok03xvqZ87w.

Other options. There are other options, of course. You don’t have to go ahead and register formally as a 501(c)(3). You can just work as an informal group. Or you can set up a donor advised fund through other foundations and ask your donors to give through that vehicle (the foundation then forwards the donations to you without you having to set up a legal structure). Nevertheless, we believe that setting up formally in North America emphasises our long-term commitment to AKU and allows us to set up a structure for North American AKU patients.

Five tips for setting up a growing patient movement

I’ve been thinking recently about what the AKU movement has learnt in the past few years that is replicable to other rare disease patient groups. I’m convinced that the strength of the patient group is a crucial factor determining the chances of finding a cure for a specific rare disease. And my opinion is backed by research. Dutch researchers published last year in the journal Drug Discovery Today (Heemstra et al 2010) their findings looking at key criteria predicting success for finding treatments for rare diseases. Having a strong patient group was up there, right at the top.

We don’t yet have an authorised treatment for AKU, but we’re working on it, and we think we’re close. So here are some of the key things we’ve been doing:

1. Find the A players and recruit them to the team. People are the heart of everything. Excellent people = excellent results. From the start, we’ve worked hard at identifying and working with people we define as A-players: smart, hard working, committed, honest, open, team players, not egocentric, putting the patients first. These are the kinds of people we invite to join our international findAKUre alliance and that we recruit as staff and volunteers. These are the kinds of people that populate our science teams in Liverpool, Siena, Slovakia, Jordan, the US and across the world. These are the kinds of people who lead our patient groups in different countries.

If you’d like to find out more about how to identify A players, check out Topgrading. Developed by an American team of recruitment consultants, it’s revolutionised our approach and led to significant progress.

2. Engaging with all sectors: just the other day, I was speaking to a patient group and asking them how things were going. ‘Not bad,’ they said. ‘We had our annual fundraiser the other day and raised some money for patient support.’

‘Excellent,’ I said. ‘And what about finding a cure?’

They shrugged their shoulders. ‘Nobody’s interested.’

‘Why not? Are you engaging with industry, with scientists, with the regulators?’

They weren’t. And their case is common. Too few patient groups are engaging with the sectors that will drive forward the quest for a cure: scientists, industry and the regulators. With the recent massive surge in interest in orphan diseases, now is the best time to get out there, attend the conferences, fix up meetings, and speak to people. It’s the only way to create a movement.

3. Work closely with the umbrella groups. I have nothing but praise for groups such as EURORDIS. I’ve been singularly impressed by what they manage to achieve with their limited resources. EURORDIS works closely with its members, launching new projects such as www.rarediseasecommunities.org, advising informally on strategy, introducing us to networks. Not enough patient groups are building on all this help, yet it’s a massive boost to any effort for a rare disease group.

4. Use social media. Patient groups can now have a much bigger influence than previously thanks to social media, in order to get their message across. Blogging, Linked In, Facebook and other forms are cheap, accessible ways of creating online movements. We’ve recently created the following website grou.ps/findakure in order to bring together all our social media tools and create an online alliance of patients and scientists for AKU.

5. Grow internationally. Rare disease patients are everywhere, in all countries, all nationalities and all cultures. Unfortunately, most legal structures for charities are limited by nation. That’s why we’ve now set up AKU societies in France, Italy and North America (registered in the US, but also covering Canada). We’ll keep on expanding, registering new charities in new countries as soon as a core of patients, relatives, scientists and supporters appears. It’s the only way to keep growing, to become a credible movement and to have the numbers needed.

So those are the first five tips that come to mind. Watch this space for more to come…

France as the powerhouse of the rare disease movement

I’m just back from Paris, where we had an excellent series of meetings on Friday with the highly active rare disease community there. A real boost of inspiration and motivation and living proof that the rare disease movement can make a significant difference. France is an excellent case study of rare disease patients in action.

We started the day on Friday with a meeting at the European Organisation of Rare Disorders (EURORDIS), one of the most impressive organisations I’ve ever met. We’re working on an online community project with them (www.rarediseasecommunities.org), which will be launched in the coming weeks on Rare Disease Day. It’s a place where AKU patients from all over the world will be able to meet, share experiences and provide further information on managing their condition.

We also discussed with them our plans for obtaining a licence for Nitisinone to treat AKU. They’ve got lots of experience in this area and know the European legal and regulatory framework like the back of their hand, so it’s great to have them on board for advice.

We had lunch with the AFM/Telethon – the powerhouse behind the global drive for rare diseases. Each year, the Telethon raises nealy 100m euros in funding just in France, which it then piles into research for rare diseases. Their president is a singularly motivated person who lives for rare disease patients. They showed us round their institute and offered to give any advice we need on how to design clinical trials, fundraising, research protocols.

We ended the day at the Hopital Necker in the centre of Paris, where Prof Pascale de Lonlay wholeheartedly accepted to include AKU in her metabolic reference centre. She’s been treating tyrosinemia patients for years so she has solid experience of Nitisinone and fully agrees with us that it’s the currently most promising treatment for AKU.

So here’s my advice to any rare disease disease groups out there: if you’re not set up in France, then do so as soon as possible. It’s where a lot of things are happening. You’ll have access to top scientists, top patient umbrella groups, and top funding opportunities.

News from the US

Hi everyone,

The AKU Society has been supporting Adam Taylor for the past three years through his PhD. He’s now in the final stages of it, and he’s been doing terrific work. We’re extremely proud of his achievements and numerous publications. He has a passion for AKU that’s exemplary.

Here’s a brief update from Adam, who’s spending a few months in the USA in a top research lab:

‘I am currently writing to you from a very warm and sunny North Carolina where I am undertaking a short research visit. I recently won a scholarship from the Osteoarthritis Research Society International (OARSI) to allow me to undertake a 3 month visit to another lab to learn new techniques and skills.

‘As part of the application I had to find a “host” scientist who would be willing to give me space in their lab, resources and time. I also wanted to find someone who had knowledge of AKU – something that AKU patients know is hard to come across. Naturally I wanted to apply those skills and techniques to trying to learn more about AKU and how we can work towards applying what we know to treating this condition and osteoarthritis.

‘I was very lucky to be offered the opportunity to spend my time in the lab of Professor Kraus in the Division of Rheumatology at Duke University Medical Centre, North Carolina. Professor Kraus is one of the leading researchers in the osteoarthritis field and is familiar with AKU. Her lab is a molecular biology laboratory devoted to the study of the pathogenesis of arthritis. They investigate the interrelationship of immunological, biomechanical and genetic aspects of the disease and elucidate the differences between normal joint aging and the disease state of osteoarthritis in particular.

‘They are also interested in uncovering information about the capacity for joint repair and the metabolism that is occurring within the joint and how this alters with disease. In her lab I am learning some of the specialised techniques they perform on a daily basis. These techniques might be able to tell us something new about AKU and what other avenues for treatments might be available.

‘We are using the techniques used in the Kraus laboratory to examine a number of AKU samples. We hope that by comparing them we might be able to see if there are any common factors which may be causing the joint degeneration in AKU. We hope to see if any of these factors are similar to those that are seen in osteoarthritis. Any information we find might determine what drugs can be used to help slow or prevent the joint problems in AKU.

‘I have spent the last 10 weeks generating a large amount of data on the AKU samples. I am beginning the process of interpreting the data. In the coming weeks I hope to shed more light on the causes and consequences of the HGA pigment in the joints.’

Save the French Telethon

Dear AKU friends,

Please see the email below. Please sign the online petition and forward it to as many people as possible.

Here’s some background: the French Telethon is an annual event that raises funds for rare diseases. It’s a bit like Comic Relief’s Red Nose Day or BBC Children in Need. It’s played a huge role in raising funds and awareness about rare diseases in France and worldwide – hundreds of millions of euros for medical research around the world. It’s a fantastic initiative!

In fact, an international team of AKU researchers has applied for funds to the French Telethon this year (we’re waiting to hear back shortly) – so the death of the French Telethon could have hugely negative consequences for AKU as well as for thousands of rare diseases.

The Telethon also supports EURORDIS (The European Organisation of Rare Diseases). EURORDIS is a major player in the international movement on rare diseases, as I just saw this week in Geneva when Yann Le Cam, the CEO of EURORDIS, chaired the first day of the World Orphan Drug Congress.

(The criticisms against the Telethon come from other groups in France jealous of its amazing success. A very French debate, if I may say so!

So please read the text below, sign the petition and support the French Telethon’s fight against rare diseases everywhere. Forward this to as many people as possible. 

Nick

 

	Support the French Telethon
	November 2010
	Dear Friends of the Rare Disease Community  The French Telethon is under serious threat and might cease to exist if we do not take action now.During the past year, we have heard numerous allegations against the AFM (French Muscular Dystrophy Association) concerning the use of the funds collected by the Telethon. The threat to the Telethon will have dramatic consequences for the AFM, the Rare Disease research programs they support, the French Rare Disease Alliance, mostly funded by the Telethon, EURORDIS, funded by the Telethon for 28% of its budget, Orphanet and all rare disease patient groups across Europe. The Telethon is at the end of this week, and it is time to act! We therefore invite you to read our appeal on www.eurordis.org and to sign it on-line to support this important event that plays an essential role in the fundraising for rare diseases and in particular for Rare Disease Research. Please forward it to your members and all the people who are concerned. Thank you very much for your support. Best regards, Yann Le Cam Chief Executive Officer EURORDIS email: eurordis@eurordis.org phone: +33 1 56 53 52 10 web: http://www.eurordis.org