DEM-CHILD

A Treatment-Oriented Research Project of NCL Disorders as a Major Cause of Dementia in Childhood

 Coordinatore UNIVERSITAETSKLINIKUM HAMBURG-EPPENDORF 

 Organization address address: Martinistrasse 52
city: HAMBURG
postcode: 20246

contact info
Titolo: Dr.
Nome: Angela
Cognome: Schulz
Email: send email
Telefono: +49 40 741056391
Fax: +49 40 741055137

 Nazionalità Coordinatore Germany [DE]
 Sito del progetto http://www.dem-child.eu
 Totale costo 3˙971˙419 €
 EC contributo 2˙998˙795 €
 Programma FP7-HEALTH
Specific Programme "Cooperation": Health
 Code Call FP7-HEALTH-2011-single-stage
 Funding Scheme CP-FP
 Anno di inizio 2011
 Periodo (anno-mese-giorno) 2011-10-01   -   2014-09-30

 Partecipanti

# participant  country  role  EC contrib. [€] 
1    UNIVERSITAETSKLINIKUM HAMBURG-EPPENDORF

 Organization address address: Martinistrasse 52
city: HAMBURG
postcode: 20246

contact info
Titolo: Dr.
Nome: Angela
Cognome: Schulz
Email: send email
Telefono: +49 40 741056391
Fax: +49 40 741055137

DE (HAMBURG) coordinator 876˙160.00
2    SAMFUNDET FOLKHALSAN I SVENSKA FINLAND RF

 Organization address address: TOPELIUSGATAN 20
city: HELSINGFORS
postcode: 250

contact info
Titolo: Mr.
Nome: Christer
Cognome: Holmström
Email: send email
Telefono: +358 9 315000
Fax: +358 9 3155101

FI (HELSINGFORS) participant 542˙192.00
3    UNIVERSITY COLLEGE LONDON

 Organization address address: GOWER STREET
city: LONDON
postcode: WC1E 6BT

contact info
Titolo: Ms.
Nome: Greta
Cognome: Borg-Carbott
Email: send email
Telefono: +44 20 31083033
Fax: +44 20 78132849

UK (LONDON) participant 401˙347.00
4    UNIVERSITA DEGLI STUDI DI VERONA

 Organization address address: VIA DELL ARTIGLIERE 8
city: VERONA
postcode: 37129

contact info
Titolo: Dr.
Nome: Manuela
Cognome: Calderara
Email: send email
Telefono: +39 045 8124287
Fax: +39 045 8027276

IT (VERONA) participant 357˙120.00
5    KING'S COLLEGE LONDON

 Organization address address: Strand
city: LONDON
postcode: WC2R 2LS

contact info
Titolo: Mr.
Nome: Paul
Cognome: Labbett
Email: send email
Telefono: +44 207 848 8184
Fax: +44 207 848 8187

UK (LONDON) participant 199˙992.00
6    GABO:MI GESELLSCHAFT FUR ABLAUFORGANISATION:MILLIARIUM MBH & CO KG GAB O

 Organization address address: Oskar-von-Miller-Ring 29
city: MUENCHEN
postcode: 80333

contact info
Titolo: Mrs.
Nome: Birgit
Cognome: Fuchs
Email: send email
Telefono: +49 89 28810414
Fax: +49 89 28810420

DE (MUENCHEN) participant 170˙937.00
7    Source Bioscience plc

 Organization address address: "ORCHARD PLACE, BUSINESS PARK 1"
city: NOTTINGHAM
postcode: NG8 6PX

contact info
Nome: Nick
Cognome: Cox
Email: send email
Telefono: +44115 973 9032

UK (NOTTINGHAM) participant 146˙850.00
8    ZENTRUM FUR STOFFWECHSELDIAGNOSTIKREUTLINGEN GMBH

 Organization address address: WORTHSTRASSE 47
city: REUTLINGEN
postcode: 72764

contact info
Titolo: Dr.
Nome: Herbert
Cognome: Korall
Email: send email
Telefono: +49 7121 939934
Fax: +49 7121 939935

DE (REUTLINGEN) participant 90˙072.00
9    POST GRADUATE INSTITUTE OF MEDICAL EDUCATION AND RESEARCH

 Organization address address: "SECTOR 12, POST GRADUATE INSTITUTE OF MEDICAL EDUCATION AND RESEARCH"
city: CHANDIGARH
postcode: 160012

contact info
Titolo: Ms.
Nome: Poonam
Cognome: Manchanda
Email: send email
Telefono: +91 172 2755102
Fax: +91 172 2747099

IN (CHANDIGARH) participant 64˙828.00
10    CRM COASTAL RESEARCH AND MANAGEMENT GESELLSCHAFT FUR KUSTENFORSCHUNG UND MANAGEMENT MIT HAFTUNGSBESCHRANKUNG GBR

 Organization address address: TIESSENKAI 12
city: KIEL
postcode: 24159

contact info
Titolo: Mr.
Nome: Christian
Cognome: Koch
Email: send email
Telefono: +49 431 364 5880
Fax: 494314000000

DE (KIEL) participant 52˙155.00
11    STEINBEIS GMBH & CO. KG FUER TECHNOLOGIETRANSFER

 Organization address address: WILLI-BLEICHER-STRASSE HAUS DER WIRTSCHAFT 19
city: STUTTGART
postcode: 70174

contact info
Nome: Susanne
Cognome: Hartner
Email: send email
Telefono: +49 711 1839 814

DE (STUTTGART) participant 50˙000.00
12    GUYS AND ST THOMAS' NHS FOUNDATIONTRUST

 Organization address address: Westminster Bridge Road
city: London
postcode: SE1 7EH

contact info
Titolo: Mr.
Nome: Jeremy
Cognome: Brinley-Codd
Email: send email
Telefono: +44 2071882377
Fax: +44 2071882346

UK (London) participant 34˙532.00
13    IMAGENES GMBH

 Organization address address: ROBERT ROESSLE STRASSE 10
city: BERLIN
postcode: 13125

contact info
Titolo: Mr.
Nome: Martin
Cognome: Stock
Email: send email
Telefono: +49 30 9489 2447
Fax: +49 30 9489 2442

DE (BERLIN) participant 12˙610.00

Mappa


 Word cloud

Esplora la "nuvola delle parole (Word Cloud) per avere un'idea di massima del progetto.

genetically    cln    childhood    mutations    teaching    physical    diagnostic    transmembrane    detect    models    lines    scientists    mice    ceroid    ongoing    countries    tool    experimental    patient    epilepsy    child    genetic    ncl    stem    difficult    death    gene    options    dem    expert    decline    diagnosis    disease    disorders    neural    patients    neuronal    therapeutic    collect    dementia    date    lipofuscinoses    smes    therapies    cure    ncls    mediated    world    database    neurodegenerative    outcomes    treatment    cell    therapy    proteins    characterised    innovative    family   

 Obiettivo del progetto (Objective)

'The DEM-CHILD project focusses on the main cause for childhood dementia in Europe, the neuronal ceroid lipofuscinoses (NCLs). The NCLs are neurodegenerative diseases characterized by dementia, blindness, epilepsy and physical decline leading to an early death of the patients. Since no cure is currently available, these disorders represent a serious social, medical, and economic challenge. To date, eight NCL genes have been characterised. There is evidence suggesting that further gene loci remain to be identified. NCLs are under-diagnosed in many countries around the world as there is an overall lack of research, early diagnosis, treatment and expert availability. Furthermore, due to their broad genetic heterogeneity it is difficult to collect large numbers of genetically similar patients. As such, large therapeutic studies required for advances in treatment are difficult to initiate. The DEM-CHILD project will combine the expertise of (i) recognized European research teams with (ii) high-technology SMEs, and will (iii) collaborate with Indian experts on the following objectives: (1) High-technology SMEs will develop innovative cost- and time-effective testing and screening methods for all NCLs in order to ensure early diagnosis and thereby prevention. (2) DEM-CHILD will collect the world’s largest, clinically and genetically best characterised set of NCL patients in order to study disease prevalence and precisely describe the natural history of the NCLs leading to the development of an evaluation tool for experimental therapy studies. (3) Novel biomarkers and modifiers of NCL will be identified to support the development of innovative therapies. (4) Focussing on the development of therapies for NCLs caused by mutations in intracellular transmembrane proteins, two complementary therapeutic strategies will be used and compared in eye and brain of mouse models: a) viral-mediated gene transfer and b) neural stem cell-mediated delivery of neuroprotective factors.'

Introduzione (Teaser)

Neuronal ceroid lipofuscinoses (NCLs) are neurodegenerative disorders that have no cure and are the leading cause for childhood dementia in Europe. NCLs cause visual loss, dementia, epilepsy and progressive physical decline, resulting in the death of the patient.

Descrizione progetto (Article)

The EU-backed project 'A treatment-oriented research project of NCL disorders as a major cause of dementia in childhood' (DEM-CHILD) was initiated to develop innovative treatment options to combat NCL. The DEM-CHILD consortium consists of expert scientists, clinicians and ethicists, high-technology small and medium-sized enterprises (SMEs), and NCL patient and family associations.

An online DEM-CHILD patient database consortium has been developed with members from 10 countries, and patient recruitment as well as data collection is continuing. A major accomplishment to date is the development of the NCL diagnostic algorithm, the focus of two peer-reviewed journal publications.

NCLs have been associated with gene mutations such as CLN1, CLN2 and CLN3. An automated enzyme activity testing method based on mass spectrometry has been successfully developed to detect CLN1 and CLN2 gene mutations from dry blood spots. Researchers have also developed a cost-effective, rapid genetic diagnostic tool to detect all NCL forms through comprehensive analysis. Work is ongoing to adapt this for high-throughput applications.

Additionally, scientists identified a novel signalling pathway associated with CLN3 disease that could be a potential target for therapy. Animal models have been used to study proteomic changes due to CLN mutations and certain biochemical changes specific to CLN1 have been identified. Researchers also identified a to-date unknown NCL disease gene called ATP13A2/CLN12.

Pre-clinical testing of therapeutic options is ongoing. Adeno-associated virus constructs carrying the CLN3 or CLN6 gene for mice deficient in CLN3 or CLN6 transmembrane proteins were developed and testing is being carried out. Neural stem cell lines that over-express proteins responsible for the growth, survival and maintenance of neurons have also been established. These cell lines will be used in intra-vitreal transplants to test vision recovery in mice.

Project outcomes have been disseminated through DEM-CHILD teaching seminars, the http://www.dem-child.eu (project website) , workshops, conferences, a diagnostic hand-out and a teaching video. Early detection of NCL in a family could facilitate prenatal testing for NCL in future offspring and prevent more NCL cases. Validation of experimental therapies and palliative care with the DEM-CHILD patient database should improve patient quality of life and hopefully their outcomes.

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