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Opendata, web and dolomites

MCDS-Therapy SIGNED

Repurposing of carbamazepine for treatment of skeletal dysplasia

Total Cost €

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EC-Contrib. €

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Partnership

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Outcomes and
results

MCDS-Therapy project word cloud

Explore the words cloud of the MCDS-Therapy project. It provides you a very rough idea of what is the project "MCDS-Therapy" about.

mutations received molecules bipolar stress fda disorder metaphyseal healthcare marketing mouse lethal pain chondrodysplasia encompasses population centres health 225 cbz quality synthesis forms severity skeletal retained characterised expression mcds phase1 economics life innovative collaborative validated september minimum lt multinational restore least shown bone smes individually dossier fold chondrocytes rare 2022 poor alleviate strategy diseases form repurposing leads extremely children caused authorization therapy phase2 miss thereby er mutant renown people genetic disability epilepsy world relatively diverse endoplasmic extensive biomarker severe reticulum repurposed clinical collagen group drug prognosis candidate treatment designation phenotypes model affordable burden orphan approved mild exists tools countries 27 multicentre diagnosis aus prevalence skeleton personalise gsds hypertrophic carbamazepine 450 causing 2016 schmid comprising trial extrapolates

Project "MCDS-Therapy" data sheet

The following table provides information about the project.

Coordinator	UNIVERSITY OF NEWCASTLE UPON TYNE Organization address address: KINGS GATE city: NEWCASTLE UPON TYNE postcode: NE1 7RU website: http://www.ncl.ac.uk/ contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.
Coordinator Country	United Kingdom [UK]
Project website	https://mcds-therapy.eu/
Total cost	5˙697˙390 €
EC max contribution	5˙697˙390 € (100%)
Programme	1. H2020-EU.3.1.3. (Treating and managing disease)
Code Call	H2020-SC1-2017-Two-Stage-RTD
Funding Scheme	RIA
Starting year	2017
Duration (year-month-day)	from 2017-12-01 to 2022-11-30

Partnership

Take a look of project's partnership.

#	participants	country	role	EC contrib. [€]
1	UNIVERSITY OF NEWCASTLE UPON TYNE UNIVERSITY OF NEWCASTLE UPON TYNE Organization address address: KINGS GATE city: NEWCASTLE UPON TYNE postcode: NE1 7RU website: http://www.ncl.ac.uk/ contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	UK (NEWCASTLE UPON TYNE)	coordinator	2˙175˙161.00
2	ISTITUTO ORTOPEDICO RIZZOLI ISTITUTO ORTOPEDICO RIZZOLI Organization address address: VIA DI BARBIANO 1/10 city: BOLOGNA postcode: 40136 website: www.ior.it contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	IT (BOLOGNA)	participant	782˙175.00
3	UNIVERSITAETSKLINIKUM FREIBURG UNIVERSITAETSKLINIKUM FREIBURG Organization address address: HUGSTETTER STRASSE 49 city: FREIBURG postcode: 79106 website: n.a. contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	DE (FREIBURG)	participant	657˙569.00
4	SCIOMICS GMBH SCIOMICS GMBH Organization address address: SCHNEIDMUHLSTRASSE 19 city: HEIDELBERG postcode: 69115 website: n.a. contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	DE (HEIDELBERG)	participant	604˙030.00
5	FINOVATIS FINOVATIS Organization address address: COURS LAFAYETTE 68 city: LYON postcode: 69003 website: www.finovatis.com contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	FR (LYON)	participant	320˙937.00
6	MURDOCH CHILDRENS RESEARCH INSTITUTE MURDOCH CHILDRENS RESEARCH INSTITUTE Organization address address: FLEMINGTON ROAD RCH city: PARKVILLE postcode: 3052 website: www.mcri.edu.au contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	AU (PARKVILLE)	participant	318˙625.00
7	FINDACURE FOUNDATION FINDACURE FOUNDATION Organization address address: 66 DEVONSHIRE ROAD city: CAMBRIDGE postcode: CB1 2BL website: n.a. contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	UK (CAMBRIDGE)	participant	309˙235.00
8	ASSISTANCE PUBLIQUE HOPITAUX DE PARIS ASSISTANCE PUBLIQUE HOPITAUX DE PARIS Organization address address: 3 AVENUE VICTORIA city: PARIS postcode: 75000 website: http://www.aphp.fr contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	FR (PARIS)	participant	211˙479.00
9	GUYS AND ST THOMAS' NHS FOUNDATIONTRUST GUYS AND ST THOMAS' NHS FOUNDATIONTRUST Organization address address: Westminster Bridge Road city: London postcode: SE1 7EH website: http://www.guysandstthomas.nhs.uk/home.aspx contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	UK (London)	participant	197˙428.00
10	UNIVERSITAIR ZIEKENHUIS ANTWERPEN UNIVERSITAIR ZIEKENHUIS ANTWERPEN Organization address address: WILRIJKSTRAAT 10 city: EDEGEM postcode: 2650 website: www.uza.be contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	BE (EDEGEM)	participant	120˙750.00

Map

Project 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.

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The information about "MCDS-THERAPY" are provided by the European Opendata Portal: CORDIS opendata.

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