2016 bdsra mole cln1, cln2, cln3, cln5, cln6, cln7,
TRANSCRIPT
8 experimental WPs: NEW MODELS Development, validation and optimisation of essential new models & toolsPATHWAY LEADS Identifying therapeutic target pathways using genetics & biologyMETABOLOME Identifying therapeutic target pathways and developing new diagnostic &
monitoring techniques using metabonomicsNATURAL HISTORY Natural history of the brain and beyondCOMPOUND LEADS Identifying new therapeutic compound leadsZEBRAFISH TRIAGE Determination of therapeutic potential using zebrafishGENE THERAPY Gene therapy for the brain, eye and other organsDRUG THERAPY Delivering new small molecule therapy to the mouse
3 facilitating or supporting WPs:Patients’ Organisation involvementManagementEthics
Developing new therapies for Batten disease
PARTNERS
BATCure ConsortiumCoordinator - Sara E Mole
MRC Laboratory for Molecular Cell Biology, UCL Institute of Child Health and Department of Genetics, Evolution & Environment, University College London, London WC1E 6BT, UK. [email protected]
CONCEPT
ORGANISATIONAL STRUCTUREPROJECT DESIGN
4-5 Tasks/WP90 Deliverables50 Milestones
Disease&Models&Iden-fica-on&of&
Surrogate&Markers&
Lead&Iden-fica-on&&&Op-miza-on&
Drug&&&Gene&Therapeu-c&Strategies&
Prepare&for&Clinical&Trials&
WP01&+&WP04& WP02&+&WP03& WP05&+&WP06& WP07&+&WP08& WP09&
PreNdiscovery& Discovery& PreNclinical&
Disease&Models&Iden-fica-on&of&
Surrogate&Markers&
Lead&Iden-fica-on&&&Op-miza-on&
Drug&&&Gene&Therapeu-c&Strategies&
Prepare&for&Clinical&Trials&
SMALL MOLECULE UCL, AcureO, USAL, Orphazyme
Leads that rescue yeast & zebrafish models Leads from disease biology
GENE$THERAPY$UCL
Toxicity CLN3, CLN6 Vectors CLN3, CLN6
Special Responsibility Leads:
Communications Dissemination
Public Engagement Ethics
Exploitation & Innovation
Executive Board
General Assembly
(Decision Making)
Participating academic, SMEs & Patient Organisations
Work Package Leaders
Researchers
External Expert
Advisory Board
Coordinator (UCL)
Scientific Coordinator (Mole)
Project Manager (Ellis)
Project Support (ERIO)
Coordina(on)&)Resources)
Advice)
Repor(ng)
Repor(ng)
Liaison)
Leadership)
Advice)&)Support)
Repor(ng)
Repor(ng)&)Admin)
Advice)&)Support)
Advice)&)Support)
BATCure)
BATCure
Novel&Models&&&Tools
Effective&Treatments&&&Diagnosis
Batten disease Understanding&&Awareness
WP01&New&Models
WP07&Gene&Therapy
WP05&Compound&Leads
WP10&ManagementWP11&Ethics
WP02&Pathway&Leads
WP03&Metabolome
WP04&Natural&History WP09&PO&Involvement
WP06&Zebrafish Triage
WP06&Drug&Therapy
BATCure
transmembrane: CLN3 CLN6 CLN7 CLN8
soluble lysosomal: CLN1 CLN2 CLN5
BATCure will investigate the natural history of Batten disease, elucidate the function of key proteins and determinedisease mechanisms, as well as develop new therapies for three forms of the disease. Batten disease is one ofapproximately 50 lysosomal storage disorders, in which genetic mutations disrupt the cells ability to recyclewaste. Children and young adults with Batten disease suffer progressive neurological impairment, whichincludes: seizures, visual impairment or blindness, personality and behaviour changes, dementia, loss of motor skillsand loss of the ability to walk, talk and communicate. There is currently no treatment. This consortium brings togetherten leading scientific research groups, three companies and one patient organisation from across Europe, with halfapplying their expertise and skills to Batten disease for the first time.
This project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 666918
H2020-PHC-14-2015: New therapies for rare diseasesProject: 666918
Duration: 36 monthsStart date: 1/1/2016Award: €5 995 769
Web site: www.batcure.euTwitter: @BAT_CureFacebook: BATCure