The Next Step in Developing A Cure for AKU

Source: AKU Society 

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Alkaptonuria (AKU) was first discovered in 1902. More than 100 years later, the drug nitisinone has been identified as the first potential treatment for AKU.

Nitisinone is already licensed as a treatment for another rare disease, but it’s yet to be approved for treating AKU.

Lab experiments show nitisinone could stop the progression of AKU while clinical research from the US showed it can reduce levels of homogentisic acid (HGA), the cause of AKU damage, by up to 95%. However, further clinical trials are required to prove that nitisinone is effective in treating AKU.

Our first clinical trial, SONIA 1, is now almost complete and we are seeking AKU patients from across Europe to participate in our second longer trial, SONIA 2. This trial will last four years and will assess the long-term suitability of nitisinone for use in AKU patients. It will start in late 2013.
The trial will be based at three test centres in Europe: Liverpool (UK), Paris (France) and Piestany (Slovakia). Patients will need to make a total of 6 visits to a test centre, with each visit lasting 2 to 4 days. They will also need to complete questionnaires between visits and there will be a follow up phone call a month after the last visit.

Patients will be randomly divided into two groups. One group will receive nitisinone and the other will receive no treatment. Comparing the two groups is essential to prove nitisinone slows the progression of AKU in order to get nitisinone licensed for AKU.

Both the treatment and non-treatment groups will have regular contact with AKU experts. These experts and other health practitioners will monitor the progression of your AKU and your general health through a range of assessments. For those in the treatment group, they will also monitor any side effects that may occur.

Long distance and international travel within Europe will be arranged and paid for by the trial. Accommodation will be provided at either the hospital or at a local hotel if necessary. Other reasonable expenses such as local travel will be reimbursed. We have received funding from the European Commission to cover these costs.
All official printed information will be translated into patients’ native languages and interpreters will be provided for non-English speakers during test centre visits. Wherever possible, we will arrange for you to visit the test centre with another patient who speaks the same language as you.
We are conducting these clinical trials to help patients with AKU: nitisinone could be the treatment that they have been waiting for. If you are interested in participating in this clinical trial or if you would like more information, please visit www.developakure.eu or contact our Clinical Trials Coordinator, Hana Ayoob. You can email her at hana@akusociety.org or ring +44(0)1223 322897.

Support the CAL Undiagnosed Diseases Research & Collaboration Network Act

Source: The Global Genes Project

By Heather Long

During the week of April 9, 2013 Representative John Carter (TX-31) is planning to re-introduce my son’s bill – The CAL Undiagnosed Diseases Research & Collaboration Network Act.Image

Prior to the re-introduction, other House of Representatives members are being sought to sign on as original co-sponsors. The more Representatives that sign on as original co-sponsors, the better. Please contact your Representative in Congress and tell them that you want them to be an original co-sponsor to Cal’s Bill and urge them to contact Representative John Carter’s office.

If you don’t know who your U.S. Representative is, go to http://www.house.gov/ and typing your zip code in the box at the top right hand corner labeled “FIND YOUR REPRESENTATIVE.”

One of Heather Long’s three children (Cal) passed away in 2006 at five years old to an undiagnosed disease. Heather was told that her son’s death was likely caused by a very rare metabolic disease, and she has since focused her energies on being an advocate for patients suffering from undiagnosed and rare diseases.

In 2008, Heather co-founded a nonprofit organization, U.R. Our Hope., that assists individuals and families who are on the journey of finding a diagnosis or are navigating through the health care system after a rare diagnosis. In 2011, Heather co-authored H.R. 2671- The CAL Undiagnosed Diseases Research and Collaboration Network Act, which was proposed in the 112th Congress and is scheduled to be re-introduced during the current 113th session. And recently, Heather proudly joined the Global Genes Advocacy Leadership Group.