One man’s fight to save his sons from a rare and debilitating disease

Dr Nicolas Sireau, a social entrepreneur whose two sons have alkaptonuria (AKU), a rare genetic disease, has launched a major online crowdfunding campaign to help find a cure for the condition.

The new campaign is running on Indiegogo, a leading international crowdfunding platform, with a target of raising $98,000 in six weeks. In the first 11 days post-launch, the campaign had already raised $25,570 – over 25% of its goal.

Dr Sireau’s tireless work as chairman of the AKU Society has already led to the patient group receiving a major grant from the European Commission to fund clinical trials into AKU. “We have found a very promising treatment: it’s a drug called nitisinone,” said Dr Sireau. “If given early enough in life, it’s effectively a cure. All we need now is your support. My vision is for our children to never suffer the pain of AKU. With your help, we can make this a reality.”

If the crowdfunding campaign is successful, it will enable the AKU Society to recruit patients across Europe into clinical trials of nitisinone. As the world’s first potential treatment for AKU, nitisinone could transform patients’ lives.

Ann Kerrigan, an AKU patient from Bristol who has had multiple procedures on her knees and her shoulder as a result of her condition, said: “Donations to this cause are essential. Without the means to get patients to the trial centres, we can’t hope to secure treatment for sufferers of alkaptonuria.”

The clinical trials, called DevelopAKUre, are led by the Royal Liverpool University Hospital, University of Liverpool and 11 other partners. The AKU Society leads on patient recruitment and support. While sufficient money has been raised for the medical research, the AKU Society is asking for donations for patient travel and patient support throughout the five years of clinical research.

Read about the AKU Society’s Indiegogo campaign at: http://www.indiegogo.com/projects/cure-black-bone-disease

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About alkaptonuria (AKU) / Black Bone Disease
Alkaptonuria (AKU) was the first genetic disease ever discovered. It causes a severe form of osteoarthritis, cardiovascular problems, kidney stones and prostate stones. Symptoms typically start when people are in their 30s. Without treatment, patients develop serious joint disease. Traditional treatments include pain management and joint replacement surgeries, but these do little to slow progression of disease. Most AKU patients will need joint replacements at some points in their life, with many having over 10 such procedures.
For more information please visit: www.akusociety.org/what_is_aku

About the AKU Society
The AKU Society is a patient group dedicated to helping patients diagnosed with alkaptonuria (AKU). It helps and supports patients, raises awareness of AKU and supports research into its treatment. The AKU Society is based in Cambridge, UK.
For more information please visit: www.akusociety.org
About the DevelopAKUre clinical trials
DevelopAKUre is a series of clinical trials designed to assess whether a drug called nitisinone is an effective treatment for AKU. It is led by a consortium of 13 partners across Europe, including the coordinator (Royal Liverpool University Hospital), the sponsor (University of Liverpool) and the AKU Society. It is taking place at the National AKU Centre in Liverpool, UK; Hopital Necker in Paris, France; and the National Institute of Rheumatic Disease in Piestany, Slovakia. The trials are principally funded by a €6 million grant from the European Commission (EC), but further funding is needed to cover patient and carer expenses, and additional support work.
For more information please visit:www.developAKUre.eu

About crowdfunding
Crowdfunding is a new method of donating to good causes. It relies on small donations from a large number of people in order to reach specific funding goals. Crowdfunding has become a popular way of donating online, and several websites exist to help individuals, charities and companies make their projects known to the public.

Crowdfunding success stories include the Scanadu Scout, a scanner attachment for a smartphone that helps to monitor its user’s health. Earlier this year, the Scanadu campaign exceeded its $100,000 goal to raise over $1.6 million.

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