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Clinical Development of Nitisinone for Alkaptonuria

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.

Call for proposal

FP7-HEALTH-2012-INNOVATION-1
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Coordinator

ROYAL LIVERPOOL AND BROADGREEN UNIVERSITY HOSPITALS NHS TRUST
Address
Prescot Street
L7 8XP Liverpool
United Kingdom

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Activity type
Research Organisations
Administrative Contact
Lakshminarayan Ranganath (Dr.)
EU contribution
€ 1 540 236,42

Participants (14)

THE UNIVERSITY OF LIVERPOOL
United Kingdom
EU contribution
€ 653 621
Address
Brownlow Hill 765 Foundation Building
L69 7ZX Liverpool

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Activity type
Higher or Secondary Education Establishments
Administrative Contact
Pam Neagle (Mrs.)
NARODNY USTAV REUMATICKYCH CHOROB-NURCH NIRD NATIONAL INSTITUTE OF RHEUMATIC DISEASES
Slovakia
EU contribution
€ 515 307,50
Address
Nabrezie Ivana Krasku 4
92112 Piestany

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Activity type
Public bodies (excluding Research Organisations and Secondary or Higher Education Establishments)
Administrative Contact
Jozef Rovenský (Prof.)
ASSISTANCE PUBLIQUE HOPITAUX DE PARIS
France
EU contribution
€ 439 855,68
Address
3 Avenue Victoria
75000 Paris

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Activity type
Research Organisations
Administrative Contact
Alix Pillot (Ms.)
PSR Group BV
Netherlands
EU contribution
€ 938 879,60
Address
Planetenweg 5
2132 HN Hoofddorp

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Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Roger Legtenberg (Dr.)
CUDOS BV
Netherlands
EU contribution
€ 79 474,80
Address
Planetenweg 5
2132 HN Hoofddorp

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Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Anthony Hall (Dr.)
NORDIC BIOSCIENCE COMPOUND DEVELOPMENT A/S
Denmark
EU contribution
€ 248 840
Address
Herlev Hovedgade 207
2730 Helev

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Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Regitze Lausbak (Mr.)
UNIVERSITA DEGLI STUDI DI SIENA
Italy
EU contribution
€ 101 339
Address
Via Banchi Di Sotto 55
53100 Siena

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Activity type
Higher or Secondary Education Establishments
Administrative Contact
Annalisa Santucci (Prof.)
THE ALKAPTONURIA SOCIETY LTD
United Kingdom
EU contribution
€ 452 358
Address
Paget Road 109 Trumpington
CB2 9JG Cambridge

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Activity type
Research Organisations
Administrative Contact
Oliver Timmis (Mr.)
SWEDISH ORPHAN BIOVITRUM AB (PUBL)
Sweden
EU contribution
€ 588 853
Address
Tomtebodavagen 23a
SE-11276 Stockholm

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Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Carin Junestrand (Ms.)
USTAV MOLEKULARNEJ FYZIOLOGIE A GENETIKY SLOVENSKEJ AKADEMIE VIED
Slovakia
EU contribution
€ 17 179
Address
Vlarska 5
833 34 Bratislava

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Activity type
Higher or Secondary Education Establishments
Administrative Contact
Andrea Zatkova (Dr.)
ASSOCIATION POUR LA LUTTE CONTRE L'ALCAPTONURIE
France
EU contribution
€ 162 570
Address
Chemin Du Clos-st-martin 18
78620 L'etang-la-ville

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Activity type
Other
Administrative Contact
Serge Sireau (Mr.)
ASSOCIATION INSTITUT NECKER
France
EU contribution
€ 219 790
Address
Rue De Vaugirard 156
75015 Paris

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Activity type
Research Organisations
Administrative Contact
Houda Harb Kadri (Mrs.)
BIOMEDICINSKE CENTRUM SLOVENSKEJ AKADEMIE VIED, VEREJNA VYSKUMNA INSTITUCIA
Slovakia
EU contribution
€ 41 695
Address
Dubravska Cesta 9
845 05 Bratislava

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Activity type
Research Organisations
Administrative Contact
Andrea Zatkova (Dr.)
MOLEKULARNOMEDICINSKE CENTRUM SLOVENSKEJ AKADEMIE VIED

Participation ended

Slovakia
Address
Ulica Vlarska 3-7
831 01 Bratislava

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Activity type
Research Organisations
Administrative Contact
Andrea Zatkova (Dr.)