PRECISESADS

Molecular reclassification to find clinically useful biomarkers for systemic autoimmune diseases
PRECISESADS project logo

FACTS & FIGURES

Start Date
End Date
Call
IMI1 - Call 8
Grant agreement number
115565

Contributions
IMI Funding
9 999 323
EFPIA in kind
9 890 865
Other
2 843 651
Total Cost22 733 839

Summary

  Inflammatory autoimmune diseases such as rheumatoid arthritis and lupus affect 1-3% of the population, and while treatments exist, these are costly and have a number of serious side effects. There is growing evidence that many of these conditions may be incorrectly classified. The PRECISESADS project will study 2 500 people with various autoimmune diseases, gathering data on the molecular causes of their disease as well as their clinical symptoms. Using this information, they will pave the way for a new classification of these diseases, something that will allow doctors to offer patients more personalised treatments at an earlier stage of their disease.

Chronic inflammatory autoimmune disorders like systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) are found in 1-3% of the general population. They are particularly prevalent in women, with SLE affecting nine times more women than men. Symptoms of these diseases can be severe, and patients need regular check-ups. For example, symptoms of lupus include painful, swollen joints, fever, rashes, fatigue, and sensitivity to the sun. There are few treatments available for these diseases; most receive steroids, which are associated with serious side effects including an increased propensity to infections, osteoporosis, and cardiovascular disease.

In addition, these diseases are difficult to diagnose early enough in the disease process to prevent severe or even fatal outcomes. In some cases, it can take – six to eight years from the onset of symptoms to arrive at a diagnosis. This can also have a significant impact on the psychological well-being of the patient.

New and promising biological treatments are being developed for SLE, but it is not always clear which lupus patients will benefit from which treatment, plus separate disease classification means that they cannot be used to treat other autoimmune diseases which researchers believe share a similar molecular basis. In fact, the pharmaceutical companies face major problems in trying to identify tests to determine the usefulness of drugs in clinical trials. 

A new classification of inflammatory diseases

By establishing a Europe-wide, large-scale team, PRECISESADS will provide new data to offer a more appropriate classification of these patients. The project will analyse in great detail blood and urine samples of 2 500 people with a range of systemic autoimmune diseases, as well as patients with suspected autoimmune disease who don’t have a diagnosis because they do not fulfil current clinical criteria for any of the systemic autoimmune diseases. Through the analysis of these patients’ data, the project hopes to be able to define clusters of individuals who share similar molecular pathways for their disease and so could be treated in a targeted and personalised way. By evaluating the molecular and clinical data using the latest technology, the project will deliver new biomarkers for use in more targeted clinical trials. Clinicians can then tailor therapies according to the specific molecular pathways found in individual cases. In short, treatments will become more personalised.

Towards targeted treatments

A personalised approach to the treatment of autoimmune diseases would allow patients to receive an earlier and more accurate diagnosis. Since the new data will reveal the molecular mechanisms specific different groups of diseases, a tailored approach to clinical therapy can be identified and the precise molecular pathway can then be targeted. What’s more, earlier detection and more effective treatments will mean that the damaging effects of a late diagnosis can be avoided, and the patient’s disease progression can be better controlled. 

Sharing data to move forward

PRECISESADS brings together industry experience with academic and clinical expertise in the fields of genetics, metabolomics, mass spectrometry, rheumatology, and autoimmunology. The project will provide an advantage for the European pharmaceutical industry through the unique possibility of sharing new and existing data and findings on an unprecedented scale for these diseases. The expertise of the pharmaceutical industry is essential, as they have important knowledge of prior failures in this disease area and understand the urgent need to overcome the problem of the inappropriate classification of patients.

By pooling existing data and using cutting-edge technologies, the project will help to pave the way for more effective and earlier treatment of these debilitating and dangerous autoimmune diseases. The research being undertaken has always been seen as necessary but sufficient funding and a collaborative model has only now become possible through IMI. This is a unique research project will directly benefit from advances in technology and will ultimately deliver results at the patient’s bedside. 

Achievements & News

PRECISESADS hits 1 000 mark on patient recruitment
IMI project PRECISESADS has now recruited over 1 000 people into its pan-European clinical study on systemic autoimmune diseases such as rheumatoid arthritis and lupus. The milestone means that the project is well on track to recruit a total of 2 500 people from 9 countries into the study. ### In the project, patients with the diseases under study as well as healthy people are giving blood and urine samples which are analysed in detail. ‘This will allow us to gain a full molecular profile of the patients and (hopefully) allow us to cluster the patients into groups based on their molecular profile instead of their clinical symptoms,’ explains project coordinator Marta Alarcón Riquelme of GENYO in Spain. ‘This would then allow clinicians to tailor the therapies to the specific pathways to be targeted in a sort of personalised medicine.’ The project hopes to recruit all patients needed for the study by the middle of 2017.

Join PRECISESADS for a conference on the genomics of complex diseases
IMI’s PRECISESADS will hold a conference on the genomics of conference diseases in Granada, Spain on 10-11 March 2016. PRECISESADS is working on a new classification of autoimmune diseases such as rheumatoid arthritis and lupus, and the study will pave the way for more personalised treatments. ### The conference will provide an overview of the genetic, epigenetic, regulatory and functional aspects of genomics studies as well as the new challenges posed by next generation sequencing and bioinformatics in the understanding of complex diseases, focused on systemic autoimmune diseases. The scientific program will include updates on genetic susceptibility of lupus and other autoimmune diseases, studies around immune cells and autoimmune disease and drug repositioning and other interesting topics. In addition, PhD students and post-docs are invited to submit abstracts for the event. Deadline for registration: 31 December 2015. 

IMI projects working on a new way of defining diseases
The work of IMI’s PRECISESADS and AETIONOMY projects on disease taxonomy is spotlighted in a new Nature Reviews Discovery comment piece. Currently, most diseases are still defined largely on the basis of their symptoms, yet while two patients may share the same diagnosis, the underlying causes of their symptoms may be very different. ###This means that a treatment that works in one patient may prove ineffective in another. The AETIONOMY and PRECISESADS projects are pioneering a new approach to the classification of disease; for AETIONOMY, in the field of Alzheimer’s and Parkinson’s diseases, and for PRECISESADS, in the field of systemic autoimmune diseases (such as rheumatoid arthritis and lupus). Although the projects are tackling the problem in different ways, their overall goal is the same: to pave the way towards a new taxonomy of disease that is based on the underlying causes of disease. In the long term, this will help to diagnose patients more accurately and provide them with a treatment that works for them.

Participants Show participants on map

EFPIA companies
  • Bayer Aktiengesellschaft, Leverkusen, Germany
  • Eli Lilly and Company Ltd, Basingstoke, United Kingdom
  • Institut De Recherches Internationales Servier, Suresnes, France
  • Sanofi-Aventis Research and Development, Chilly Mazarin, France
  • UCB Biopharma SPRL, Brussels, Belgium
Universities, research organisations, public bodies, non-profit groups
  • Agencia Estatal Consejo Superior De Investigaciones Cientificas, Madrid, Spain
  • Atrys Health SA , Madrid, Spain
  • Centro Hospitalar do Porto – Hospital Santo António, Porto, Portugal
  • Charité – Universitätsmedizin Berlin, Berlin, Germany
  • Consorci Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain
  • Fondazione Irccs Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy
  • Fundacion Publica Andaluza Progreso y Salud , Seville , Spain
  • Fundació Institut d'Investigació Biomèdica de Bellvitge, Hospitalet De Llobregat, Spain
  • Karolinska Institutet, Stockholm, Sweden
  • Katholieke Universiteit Leuven, Leuven, Belgium
  • Medizinische Hochschule Hannover, Hannover, Germany
  • Medizinische Universitaet Wien, Vienna, Austria
  • Servicio Andaluz de Salud, Sevilla, Spain
  • Servicio Cántabro de Salud, Santander, Spain
  • The Cyprus Foundation for Muscular Dystrophy Research, Nicosia, Cyprus
  • Universidad De Granada, Granada, Spain
  • Universite catholique de Louvain, Louvain-La-Neuve, Belgium
  • University Hospital of Cologne, Cologne, Germany
  • University of Szeged, Szeged, Hungary
  • Università degli Studi di Milano, Milano, Italy
  • Université de Bretagne Occidentale, Brest, France
  • Université de Genève, Genève 4, Switzerland
Small and medium-sized enterprises (SMEs)
  • Quartz Bio S.A., Plan-les-Ouates, Switzerland
Third parties
  • Centre Hospitalier de Recherche Universitaire , Brest, France

CONTACT

Project coordinator
Chris Chamberlain
UCB Biopharma SPRL
Chris.Chamberlain[at]ucb.com
Managing entity
Marta Alarcon-Riquelme
Fundacion Publica Andaluza Progreso y Salud
marta.alarcon[at]genyo.es