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Repurposing of carbamazepine for treatment of skeletal dysplasia

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 epilepsy and bipolar disorder and received orphan drug designation by the European Commission for the treatment of MCDS in September 2016.
MCDS-Therapy is 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 biomarker development and health economics assessment studies to deliver by 2022 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.

Call for proposal

H2020-SC1-2016-2017

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Sub call

H2020-SC1-2017-Two-Stage-RTD

Coordinator

UNIVERSITY OF NEWCASTLE UPON TYNE
Net EU contribution
€ 1 814 873,99
Address
Kings Gate
NE1 7RU Newcastle Upon Tyne
United Kingdom

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Region
North East (England) Northumberland and Tyne and Wear Tyneside
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00

Participants (11)

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
€ 360 287,26
Address
Freeman Hospital, High Heaton
NE7 7DN Newcastle-upon-tyne

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Region
North East (England) Northumberland and Tyne and Wear Tyneside
Activity type
Public bodies (excluding Research Organisations and Secondary or Higher Education Establishments)
Non-EU contribution
€ 0,00
ASSISTANCE PUBLIQUE HOPITAUX DE PARIS
France
Net EU contribution
€ 211 479,00
Address
3 Avenue Victoria
75000 Paris

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Region
Ile-de-France Ile-de-France Paris
Activity type
Research Organisations
Non-EU contribution
€ 0,00
UNIVERSITAIR ZIEKENHUIS ANTWERPEN
Belgium
Net EU contribution
€ 120 750,00
Address
Drie Eikenstraat 655
2650 Edegem

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Region
Vlaams Gewest Prov. Antwerpen Arr. Antwerpen
Activity type
Research Organisations
Non-EU contribution
€ 0,00
UNIVERSITAETSKLINIKUM FREIBURG
Germany
Net EU contribution
€ 657 569,00
Address
Hugstetter Strasse 49
79106 Freiburg

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Region
Baden-Württemberg Freiburg Freiburg im Breisgau, Stadtkreis
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00
MURDOCH CHILDRENS RESEARCH INSTITUTE
Australia
Net EU contribution
€ 318 625,00
Non-EU contribution
€ 0,00
GUYS AND ST THOMAS' NHS FOUNDATIONTRUST
United Kingdom
Net EU contribution
€ 197 428,75
Address
Westminster Bridge Road
SE1 7EH London

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Region
London Inner London — East Lambeth
Activity type
Research Organisations
Non-EU contribution
€ 0,00
BEACON: FOR RARE DISEASES LTD
United Kingdom
Net EU contribution
€ 309 235,00
Address
66 Devonshire Road
CB1 2BL Cambridge

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Region
East of England East Anglia Cambridgeshire CC
Activity type
Research Organisations
Non-EU contribution
€ 0,00
ISTITUTO ORTOPEDICO RIZZOLI
Italy
Net EU contribution
€ 516 741,84
Address
Via Di Barbiano 1/10
40136 Bologna

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Region
Nord-Est Emilia-Romagna Bologna
Activity type
Research Organisations
Non-EU contribution
€ 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
€ 265 433,16
Address
Via Zamboni 33
40126 Bologna

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Region
Nord-Est Emilia-Romagna Bologna
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00
SCIOMICS GMBH
Germany
Net EU contribution
€ 604 030,00
Address
Karl-landsteiner Str. 6
69151 Neckargemund

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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)
Non-EU contribution
€ 0,00
FINOVATIS
France
Net EU contribution
€ 320 937,50
Address
62 Rue De Bonnel
69003 Lyon

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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)
Non-EU contribution
€ 0,00