Objective
DevelopAKUre is a proposal to fund the clinical development of an orphan designated drug, nitisinone, for the treatment of a rare Mendelian disease, Alkaptonuria (AKU). AKU is a genetic deficiency of homogentisic acid dioxygenase, causing high levels of homogentisic acid (HGA). Oxidation of HGA to pigment polymer, termed ochronosis, alters connective tissues. This leads to multisystemic damage dominated by premature severe arthritis. Currently, multiple arthroplasty is inevitable since AKU is incurable and there is no effective palliative therapy. No data exists regarding the presence or absence of ochronosis before age 30 years. Hence, it is unknown whether treatment is necessary before then. A potential HGA-lowering therapy with nitisinone is available, but lacks outcome data. Thanks to our existing successful fundamental and clinical research (cell models, animal models, natural history studies), we are now ready for the final stage of clinical development of nitisinone for AKU in order to overcome these challenges. This will involve a dose finding study, a phase 3 clinical trial to prove efficacy, and a cross-sectional study in children and young adults to determine when to start treatment. The results of DevelopAKUre will allow us to make the case to the European Medicines Agency for marketing authorisation of nitisinone for AKU, thereby contributing to the goal of the International Rare Diseases Research Consortium of 200 new therapies by 2020. Our consortium has worked together for five years already. It includes Liverpool University’s AKU Research Team as the lead applicant, the AKU Society UK patient group for dissemination and patient recruitment, three SMEs (Denmark, Netherlands) for biomarker analysis and clinical trial coordination, an industry partner (Sweden) supplying the drug and regulatory support, three universities (UK, Italy, Slovakia) for the analysis of data, and three clinical trial centres (UK, France, Slovakia) to reach required numbers.
Fields of science
Call for proposal
FP7-HEALTH-2012-INNOVATION-1
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Funding Scheme
CP-FP - Small or medium-scale focused research projectCoordinator
L7 8XP Liverpool
United Kingdom
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Participants (14)
L69 7ZX Liverpool
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92112 Piestany
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75012 Paris
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2132 HN Hoofddorp
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2132 HN Hoofddorp
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2730 Helev
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53100 Siena
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CB2 9JG Cambridge
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SE-11276 Stockholm
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833 34 Bratislava
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78620 L'etang-la-ville
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75015 Paris
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845 05 Bratislava
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Participation ended
831 01 Bratislava