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Nick Sireau si é iscritto a una durissima corsa militare per ottenere fondi per l'AKU Society!

Dear AKU friends,

Call me mad, call me crazy - but I've just signed up for a 10k Military Run to raise funds for the AKU Society...

I'll be clambering over obstacles, delving into ditches, wading through water, sloshing through mud, pushing through undergrowth, and staggering up and down plenty of hills. Organised by British Military Fitness, it promises to be quite an experience...

Would you like to sponsor me? I've set up a fundraising page at http://www.justgiving.com/Nicolas-Sireau. It's a safe and easy way to donate straight to the AKU Society.

I'm raising funds for our study of how AKU affects children. Even though the visible symptoms (joint and heart disease, etc) appear only in adulthood, the underlying damage caused by AKU's Black Bone Disease may be starting much earlier. We need to find out when - is it age 5, age 10, age 15 or age 20? This will help us decide when to start treatment before it's too late. Thanks to the untiring work of AKU medical director Dr L Ranganath and his team, we'll be doing MRI scans of the joints, X-rays of the bones, echocardiograms of the heart, urine and blood tests and many other tests.

 

Leggi tutto...

Riceviamo dall'associazione inglese

Dear AKU friends,

 

We’re very pleased to announce yet more progress over the past month in our fight to develop a treatment for AKU. Here’s the latest...

 

1.The Nitisinone Action Team grows

We’re thrilled that two world class leaders in the realm of orphan drugs have agreed to advise us in an entirely voluntary, pro bono capacity on how to drive forward our plans for Nitisinone:

Dr Anthony Hall is Chief Medical Officer at PSR Group (www.psr-group.com), a leading organisation that organises clinical trials for rare diseases. Tony attended our Cambridge conference was so impressed by our work that he offered to advise us on how to take forward our plans for Nitisinone and help us when we make contact with the European Medicines Agency.

Dr Emil Kakkis is President and Founder of the Kakkis Everylife Foundation and a global expert in the development of treatments for ultra rare diseases such as AKU. He’s kindly offered to advise us informally on the US regulatory process. You can read about Emil here: http://en.wikipedia.org/wiki/Emil_Kakkis.

We’re driving ahead with our plans for using Nitisinone to treat AKU and have already received excellent advice from outstanding groups such as the European Organisation for Rare Diseases (EURORDIS) and the AFM/Telethon - which we visited two weeks ago in Paris thanks to Hogan Lovells, the top legal firm that provides us with pro bono advice. We did a presentation about the AKU story and our quest for Nitisinone to 200 senior pharma executives at the Economist Pharma Summit in London last week, which generated significant positive interest.

We’ve been invited as observers to the European Medicine’s Agency’s Patients’ and Consumers’ Working Party next week, which was established to provide recommendations to the EMA on matters relating to medicinal products. We expect to learn a lot about how the EMA works.

 

2.Liverpool team publishes new article on AKU

Dr Ranganath et al have published a new article called ‘Identification of Alkaptonuria in the general population: a United Kingdom experience describing the challenges, possible solutions and persistent barriers’ in the Journal of Inherited Metabolic Disorders.

Read the abstract here: http://www.springerlink.com/content/m1j1w2612h8471p1/abstract/.

(To read the whole article you’ll have to have access to a university account or buy it - sorry).

 

3.The reports of the Cambridge conference are now online

The majority of the presentations from the Cambridge AKU Conference are now available for download from our website. Go to: http://www.alkaptonuria.info/en/news_85.php.

 

4.Siobhan Murphy completes parachute jump for AKU

On 29 January, a relative of an AKU patient, Siobhan Murphy, completed a parachute jump, rasing £1,500 for the AKU Society:

"I did the parachute jump on Saturday and with absolute no bravado and even less dignity, I can honestly say it was the most terrifying thing I have ever done.” To read the whole story, go to: http://www.alkaptonuria.info/en/news_84.php. You can still donate by going to: http://www.justgiving.com/Siobhan-Murphy1.

 

5.AKU Society teams up with British Military Fitness for fundraising

We’ve just signed up with British Military Fitness for their 5k and 10k races on 5 March in The North (Prestwich) and 26 March in London (Redhill, Surrey). These Military Series are tough: wet, muddy and challenging. Along the way you'll find obstacles, ditches, water, mud, trees and plenty of hills. You will get dirty, and your trainers will never look the same again. But all the courses are designed to be fun, and we guarantee you'll finish with a smile on your face.

If you’d like to sign up and raise funds for the AKU Society, go to http://www.bmfadventures.com/adventures/challenges-and-races/13/military-5k-and-10k-london, and then set up a fundraising page at www.justgiving.com/alkaptonuria.

 

6.Interested in the London 10k run?

We’ve also got 12 places for the London 10K Run, which include chip timing and official race photograph. The run takes place on 10 July 2011 and is another fantastic opportunity to raise funds for the AKU Society.

Let us know if you’d like a place, email me at Questo indirizzo email è protetto dagli spambots. È necessario abilitare JavaScript per vederlo. and I’ll send you the form to fill in.

 

7.AKU Research Team to present at European Congress

The Liverpool research team have been invited to present their findings to the European Congress on Osteoporosis and Osteoarthritis that will take place on 23-26 March at the Valencia Congress Center in Spain. The presentation will be on ‘Detection of novel microanatomical structures in bone from a patient with alkaptonuria’ and will be another excellent opportunity to promote AKU to a scientific audience.

 

8.AKU patient tells her story for Rare Disease Day

Denise Higgins, AKU patient and the Secretary of the newly formed AKU Society North America, tells her story on a video for Rare Disease Day. Watch it here: http://www.youtube.com/watch?v=Ok03xvqZ87w.

If you want to record and upload your own video about AKU and help raise funds for the National Organisation for Rare Disorders (NORD) in the US, go to: http://rarediseaseday.us/take-action-now/video-project/.

We’ll be attending the Houses of Parliament on Rare Disease Day on 28 February to represent the AKU Society at a special event organised by the Genetic Alliance UK and hosted by our Cambridge Member of Parliament, Dr Julian Huppert.

 

9.AKU around the world: Tunisia and India

The AKU map is growing, with two cases just reported in the Tunisian scientific literature. You can read the whole article here: http://www.latunisiemedicale.com/article-medicale-tunisie_1640_en. The abstract is in English, but the rest of the article is in French.

We’ve also just come across this article in the Times of India about an AKU patient undergoing joint replacement and heart bypass surgery: http://timesofindia.indiatimes.com/city/bangalore/Man-with-rare-genetic-disorder-undergoes-surgeries/articleshow/6245469.cms.

 

10.Subscribe to my blog on the quest for a cure

I’ve now added a box on my blog that allows you to subscribe to it and get an email update every time there’s a new post (about once a week). Go to akuquest.wordpress.com and fill in the ‘email subscription’ field.

 

11.Check out the new rare disease search engine at raredisease.org

This search engine uses Google technology to search exclusively for topics relating to rare diseases. Go to: http://raredisease.org/.

And that's it for now! As always, you can donate at www.justgiving.com/alkaptonuria. We rely on your donations to do all the work mentioned above, so please give generously and ask your friends and colleagues to give too.

 

All the very best,

Nick

--
Dr Nicolas Sireau
Chairman

AKU Society

Citylife Social Enterprise Centre

182-190 Newmarket Road

Cambridge CB5 8HE, UK

www.alkaptonuria.info

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