The DevelopAKUre consortium was made up of 12 partner organisations from across Europe. Below you can learn about who they were and what they did during DevelopAKUre. To learn more about the clinical trials, please here.

Clinical Sites

Name Royal Liverpool University Hospital
Location Liverpool, UK
Contact Prof Laksminarayan Ranganath
Description The Royal Liverpool University Hospital is an NHS hospital in the UK, and is also the site of the National AKU Centre (NAC) , an expert assessment and treatment centre for AKU patients.

The hospital was the coordinator of DevelopAKUre, meaning it was responsible for budgets and reporting to the European Commission. It was also the UK clinical trial site, enrolling 15 patients into SONIA 1, 41 patients into SONIA 2 and 32 patients into SOFIA.

logo of National Institute of Rheumatic Disease (NIRD)
Name National Institute of Rheumatic Disease (NURCH)
Location Piestany, Slovakia
Contact Prof Jozef Rovensky
Description The National Institute of Rheumatic Disease was founded in 1953 and has over 60 years of experience research into AKU, ochronosis and inflammatory rheumatic disease. It now functions as a teaching centre for rheumatology research in Slovakia.

The institute was the Slovak clinical trial site for DevelopAKUre, enrolling 15 patients into SONIA 1 and 63 patients into SONIA 2.

Name Hopital Necker & Institute Necker
Location Paris, France
Contact Prof Pascale de Lonlay
Description The Reference Centre of Inherited Metabolic Diseases and the Institute Necker are departments of the Hopital Necker. The hospital is a reference centre for rheumatology disease in paediatric and adult patients. It has experience of treating AKU patients, and in using nitisinone for the treatment of tyrosinaemia patients.

The hospital was the French clinical trial site for DevelopAKUre, enrolling 33 patients into SONIA 2.


Patient Recruitment, Dissemination & Support

Name The AKU Society
Location Cambridge, UK
Contact Nick Sireau
Description The AKU Society is a UK patient group, supporting those diagnosed with alkaptonuria. Founded in 2003, the group has over 17 years’ experience of the disease. The group initiated the start of DevelopAKUre in order to properly assess nitisinone as a potential treatment for AKU patients.

The AKU Society led on patient identification, recruitment and support for all patients enrolled at the three clinical sites across Europe. It also led on dissemination of the project.

Location Paris, France
Contact Serge Sireau
Description ALCAP (Association pour la Lutte Contre l’Alcaptonurie) is a French patient group, supporting those diagnosed with alkaptonuria. Founded in 2006, it represents over 70 members in France.

ALCAP led on patient identification, support for the French patients enrolled into the clinical site at Hôpital Necker and on dissemination of the project in French-speaking countries.


Regulatory, Monitoring & Drug Supply

Name Swedish Orphan Biovitrum (Sobi)
Location Stockholm, Sweden
Contact Mattias Rudebeck
Description Sobi is a Swedish based leading integrated biopharmaceutical company dedicated to bringing innovative therapies and services to improve the lives of rare disease patients and their families. Sobi currently markets nitisinone (under brand name: Orfadin®) for use in patients diagnosed with hereditary tyrosinaemia type I.

Sobi supplied nitisinone to DevelopAKUre, and also provided regulatory and pharmacovigilance support and submitted the final positive data to the European Medicines Agency for approval of nitisinone as a treatment for AKU.

Name PSR Group
Location Hoofddorp, The Netherlands
Contact Christa van Kan
Description PSR is a leading orphan drug development CRO (contract research organisation), which specialises in the design and implementation of clinical trials in rare diseases.

PSR was the medical monitor, and trial manager for DevelopAKUre, ensuring all clinical sites followed the protocols and process and stored data correctly. PSR was also responsible for submission of ethical and legal documents.


Analysis Of Results

Name University of Liverpool
Location Liverpool, UK
Contact Prof Jim Gallagher
Description The University of Liverpool is a public university based in Liverpool, UK and established in 1881. The Department of Musculoskeletal Biology has been conducting research into AKU since 2005.

In DevelopAKUre, the university led on sample analysis (in particular the histology of cartilage samples), data collection and storage. It also led on the statistical analysis of results.

Name Nordic Bioscience
Location Herlev, Denmark
Contact Dr Federica Genovese
Description Nordic Bioscience is an independent research organisation that specialises in the development of biological markers (biomarkers) for osteoporosis, osteoarthritis, cardiovascular disease, diabetes and other serious illnesses.

In DevelopAKUre, Nordic will led on the analysis of several biomarkers indicating changes to the progression of AKU disease.

Name University of Siena
Location Siena, Italy
Contact Prof Annalisa Santucci
Description The University of Siena is a public university based in Siena. It was founded in 1240, making it one of the oldest universities in Italy. The Laboratory of Cellular Biochemistry led on the university’s contribution to DevelopAKUre.

The university led on analysis of biochemical samples, indicating inflammation and oxidative stress in samples taken from AKU patients.

Name Biomedical Research Centre
Location Bratislava, Slovakia
Contact Dr Andrea Zatkova
Description The Biomedical Research Centre forms a part of the Slovak Academy of Sciences (BMC SAS). It includes the Institute of Clinical and Translational Research and the Laboratory of Genetics, which has conducted several studies looking at the molecular analysis of Slovak patients affected by AKU. They applied their expertise to a wider population of patients as a part of DevelopAKUre.

The institute led on the genetic analysis of patient samples in DevelopAKUre, in order to better understand new mutations that cause AKU.