Objective Genetic skeletal diseases (GSDs) are an extremely diverse and complex group of rare genetic diseases that affect the development the skeleton. There are more than 450 unique and well-characterised phenotypes that range in severity from relatively mild to severe and lethal forms. Although individually rare, as a group of related genetic skeletal diseases, GSDs have an overall prevalence of at least 1 per 4,000 children, which extrapolates to a minimum of 225,000 people in the 27 member states and candidate countries of the EU. This burden in pain and disability leads to poor quality of life and high healthcare costs.Metaphyseal chondrodysplasia, type Schmid (MCDS) results from mutations in collagen X and affects <1/100,000 of the population. Mutant collagen X molecules miss-fold during synthesis and are retained within the endoplasmic reticulum (ER) of hypertrophic chondrocytes, thereby causing ER stress. Our extensive pre-clinical studies have shown that carbamazepine (CBZ) can alleviate ER stress caused by the expression of mutant collagen X and restore bone growth in a validated mouse model of MCDS. CBZ is an FDA approved drug used for the treatment of epilepsyand bipolar disorder and received orphan drug designation by the European Commission for the treatment of MCDS in September 2016.MCDS-Therapy was originally proposed as a 5-year collaborative project comprising world-renown clinical centres and SMEs to advance the repurposing of CBZ for MCDS (up to the Marketing Authorization Application dossier) through a multicentre and multinational (EU & AUS) clinical trial (Phase1, Phase2/3). MCDS-Therapy also encompasses biomarkerdevelopment and health economics assessment studies to deliver, evidence to inform potential further studies of an innovative and affordable (CBZ already exists in a generic form) repurposed therapy for MCDS along with the diagnosis/prognosis tools to personalise the treatment strategy. The original proposal was for completion of this by 2022 however delays associated with the COVID pandemic have resulted in a need to extend the project with completion now forecast by May 2024. Fields of science medical and health scienceshealth sciencespublic healthepidemiologypandemicsnatural sciencesbiological sciencesgeneticsmutationsocial scienceseconomics and businesseconomicshealth economics Keywords Orphan drug Repurposing clinical trial Health economics biomarkers skeletal dysplesia metaphyseal chondrodysplasia type Schmid Programme(s) H2020-EU.3.1. - SOCIETAL CHALLENGES - Health, demographic change and well-being Main Programme H2020-EU.3.1.3. - Treating and managing disease Topic(s) SC1-PM-08-2017 - New therapies for rare diseases Call for proposal H2020-SC1-2016-2017 See other projects for this call Sub call H2020-SC1-2017-Two-Stage-RTD Funding Scheme RIA - Research and Innovation action Coordinator UNIVERSITY OF NEWCASTLE UPON TYNE Net EU contribution € 1 960 601,86 Address Kings gate NE1 7RU Newcastle upon tyne United Kingdom See on map Region North East (England) Northumberland and Tyne and Wear Tyneside Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 Participants (11) Sort alphabetically Sort by Net EU contribution Expand all Collapse all Third-party Legal entity other than a subcontractor which is affiliated or legally linked to a participant. The entity carries out work under the conditions laid down in the Grant Agreement, supplies goods or provides services for the action, but did not sign the Grant Agreement. A third party abides by the rules applicable to its related participant under the Grant Agreement with regard to eligibility of costs and control of expenditure. THE NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST United Kingdom Net EU contribution € 410 287,26 Address Freeman hospital, high heaton NE7 7DN Newcastle-upon-tyne See on map Region North East (England) Northumberland and Tyne and Wear Tyneside Activity type Public bodies (excluding Research Organisations and Secondary or Higher Education Establishments) Links Contact the organisation Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 ASSISTANCE PUBLIQUE HOPITAUX DE PARIS France Net EU contribution € 99 677,72 Address 55 boulevard diderot 75012 Paris See on map Region Ile-de-France Ile-de-France Val-de-Marne Activity type Research Organisations Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 UNIVERSITAIR ZIEKENHUIS ANTWERPEN Belgium Net EU contribution € 70 376,53 Address Drie eikenstraat 655 2650 Edegem See on map Region Vlaams Gewest Prov. Antwerpen Arr. Antwerpen Activity type Research Organisations Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 UNIVERSITAETSKLINIKUM FREIBURG Germany Net EU contribution € 382 015,88 Address Hugstetter strasse 49 79106 Freiburg See on map Region Baden-Württemberg Freiburg Freiburg im Breisgau, Stadtkreis Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 MURDOCH CHILDRENS RESEARCH INSTITUTE Australia Net EU contribution € 340 625,00 Address Flemington road rch 3052 Parkville See on map Activity type Research Organisations Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 GUYS AND ST THOMAS' NHS FOUNDATIONTRUST United Kingdom Net EU contribution € 277 428,75 Address Westminster bridge road SE1 7EH London See on map Region London Inner London — East Lambeth Activity type Research Organisations Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 BEACON: FOR RARE DISEASES LTD United Kingdom Net EU contribution € 309 235,00 Address 66 devonshire road CB1 2BL Cambridge See on map Region East of England East Anglia Cambridgeshire CC Activity type Research Organisations Links Contact the organisation Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 ISTITUTO ORTOPEDICO RIZZOLI Italy Net EU contribution € 571 741,84 Address Via di barbiano 1/10 40136 Bologna See on map Region Nord-Est Emilia-Romagna Bologna Activity type Research Organisations Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 Third-party Legal entity other than a subcontractor which is affiliated or legally linked to a participant. The entity carries out work under the conditions laid down in the Grant Agreement, supplies goods or provides services for the action, but did not sign the Grant Agreement. A third party abides by the rules applicable to its related participant under the Grant Agreement with regard to eligibility of costs and control of expenditure. ALMA MATER STUDIORUM - UNIVERSITA DI BOLOGNA Italy Net EU contribution € 285 433,16 Address Via zamboni 33 40126 Bologna See on map Region Nord-Est Emilia-Romagna Bologna Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 SCIOMICS GMBH Germany Net EU contribution € 604 030,00 Address Karl-landsteiner str. 6 69151 Neckargemund See on map SME The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed. Yes Region Baden-Württemberg Karlsruhe Rhein-Neckar-Kreis Activity type Private for-profit entities (excluding Higher or Secondary Education Establishments) Links Contact the organisation Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 FINOVATIS France Net EU contribution € 385 937,50 Address 62 rue de bonnel 69003 Lyon See on map SME The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed. Yes Region Auvergne-Rhône-Alpes Rhône-Alpes Rhône Activity type Private for-profit entities (excluding Higher or Secondary Education Establishments) Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00
