The drug nitisinone is being researched as the first potential treatment for alkaptonuria (AKU). Previous research has shown that nitisinone can
reduce the levels of homogentisic acid (HGA) by up to 95 %.
Animal models have shown that, if administered early enough, nitisinone could potentially prevent the disease from developing.
The US National Institutes of Health (NIH) began a three-year clinical trial of nitisinone in April 2005. Unfortunately, the results were inconclusive and more work needs to be done before the drug can be approved as a treatment for AKU.
We are involved in a series of clinical trials called DevelopAKUre, lasting five-and-a-half years. The trials will follow AKU patients taking nitisinone to see if the drug has any effect on the disease. If the trials show that nitisinone is effective in treating AKU, we will apply to get the drug licensed as an official treatment for AKU. We are currently recruiting for SOFIA, an observational study, looking at when symptoms begin in young AKU patients. If you are interested in taking part or learning more, please contact Ciarán Scott by emailing [email protected]. Further information can also be found on our clinical trials microsite, www.developakure.eu.
As nitisinone is licensed for another rare disease, hereditary tyrosinemia type 1, doctors can prescribe it to AKU patients' off-label. Nitisinone is currently prescribed off-label to English and Scottish patients who attend the National AKU Centre (NAC) in Liverpool. Patients in Wales and Northern Ireland do not currently have funding for nitisinone. To find out more about the NAC, contact Lesley Harrison, our Patient Support Manager, by emailing her at [email protected].
AKU causes extreme wear and tear on the joints, so many patients have joint replacements. This helps to relieve pain and increases mobility. It
is important to speak to your doctor and be referred to a specialist if you need a joint replacement. Most of our patients have at least one
joint replacement in their lifetime, often much more. If you are going for a joint replacement in the UK, find out more about the
National Joint Registry (NJR). The NJR collects information on joint replacement surgery and monitors the performance of artificial
joints. Your surgeon or specialist should tell you more about the NJR before your joint replacement.
If you are an AKU patient in the UK who has a joint replacement operation planned, and would like to discuss donating a sample to benefit AKU research, please contact Lesley Harrison at [email protected] who can provide further information.
Published: 24.07.16 Next Review Date: 24.07.19
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