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Long-term, prospective study evaluating clinical and molecular biomarkers of epileptogenesis in a genetic model of epilepsy – tuberous sclerosis complex

Objective

Despite a great progress in the management of epilepsy, still one third of patients is refractory to available medications. The incidence of epilepsy is highest in infancy and 50% of children experience epilepsy-related comorbidities, such as developmental delay and autism. The development of epilepsy (epileptogenesis), extensively studied in animals, is barely studied in humans, as patients usually present AFTER the seizure onset.
EPISTOP is the first prospective study of epileptogenesis in humans, beginning BEFORE seizures and continuing through age 2+ years, permitting detailed analysis of the onset, drug-resistance, and comorbidities of epilepsy. To maximize information derived from the study we have chosen homogenous group of patients with prenatal or early infantile diagnosis of Tuberous Sclerosis Complex (TSC). A clinical randomized study of pre-seizure treatment in TSC infants is a part of the project.
The aim of EPISTOP is to examine the risk factors and biomarkers of epilepsy and to identify possible new therapeutic targets to block or otherwise modify epileptogenesis in humans. Biomarker analysis will be performed by a multidisciplinary, systematic approach in three clinical settings:
1/ prospective study of epilepsy development in infants with TSC, including analysis of clinical, neuroimaging, and molecular, blood-derived biomarkers at predefined time points: before the onset of seizures, at the onset of epileptiform discharges on EEG, at seizure onset and at the age of 24 months
2/ prospective study of blood-based biomarkers in infants with TSC treated with antiepileptic drugs prior to seizure onset in comparison to children treated only after clinical seizures appearance.
3/ analysis of biomarkers of epileptogenesis and drug-resistant epilepsy in brain specimens obtained from TSC patients who have had epilepsy surgery and TSC autopsy cases.
EPISTOP will be carried out by a consortium of 14 partners from 9 countries, including 2 SMEs.

Field of science

  • /medical and health sciences/basic medicine/pharmacology and pharmacy/drug resistance
  • /medical and health sciences/clinical medicine/surgery
  • /medical and health sciences/basic medicine/pharmacology and pharmacy/pharmaceutical drug
  • /medical and health sciences/basic medicine/neurology/epilepsy

Call for proposal

FP7-HEALTH-2013-INNOVATION-1
See other projects for this call

Funding Scheme

CP-IP - Large-scale integrating project

Coordinator

INSTYTUT POMNIK CENTRUM ZDROWIA DZIECKA
Address
Aleja Dzieci Polskich 20
04730 Warszawa
Poland
Activity type
Research Organisations
EU contribution
€ 1 561 770
Administrative Contact
Iwona Nowak (Mrs.)

Participants (16)

UNIVERSITA DEGLI STUDI DI ROMA TOR VERGATA
Italy
EU contribution
€ 560 303
Address
Via Cracovia 50
00133 Roma
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Paolo Curatolo (Prof.)
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE
France
EU contribution
€ 403 112
Address
Rue De Tolbiac 101
75654 Paris
Activity type
Research Organisations
Administrative Contact
Celine Gaborit (Mrs.)
VRIJE UNIVERSITEIT BRUSSEL
Belgium
EU contribution
€ 452 015
Address
Pleinlaan 2
1050 Brussel
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Nik Claesen (Mr.)
FAKULTNI NEMOCNICE V MOTOLE
Czechia
EU contribution
€ 290 512,30
Address
V Uvalu 84
150 06 Praha 5
Activity type
Research Organisations
Administrative Contact
Pavel Krsek (Prof.)
CHARITE - UNIVERSITAETSMEDIZIN BERLIN
Germany
EU contribution
€ 575 752,80
Address
Chariteplatz 1
10117 Berlin
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Eveline Fräßdorf (Ms.)
UNIVERSITAIR MEDISCH CENTRUM UTRECHT
Netherlands
EU contribution
€ 635 537,40
Address
Heidelberglaan 100
3584 CX Utrecht
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Pierre Molenaar (Mr.)
ACADEMISCH MEDISCH CENTRUM BIJ DE UNIVERSITEIT VAN AMSTERDAM
Netherlands
EU contribution
€ 727 275
Address
Meibergdreef 15
1105AZ Amsterdam
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Gulseren Yalvac (Ms.)
KATHOLIEKE UNIVERSITEIT LEUVEN
Belgium
EU contribution
€ 566 898
Address
Oude Markt 13
3000 Leuven
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Karolien Mariën (Ms.)
MEDIZINISCHE UNIVERSITAET WIEN
Austria
EU contribution
€ 542 028,50
Address
Spitalgasse 23
1090 Wien
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Arnold Pollak (Prof.)
INTERNATIONAL INSTITUTE OF MOLECULAR AND CELL BIOLOGY
Poland
EU contribution
€ 774 818
Address
Ks. Trojdena 4
02-109 Warsaw
Activity type
Research Organisations
Administrative Contact
Urszula Wyrzykowska (Dr.)
THE BRIGHAM AND WOMEN'S HOSPITAL INC
United States
EU contribution
€ 653 053
Address
Francis Street 75
02241 Boston Ma
Activity type
Research Organisations
Administrative Contact
David Kwiatkowski (Prof.)
PROTEOME FACTORY AG
Germany
EU contribution
€ 758 800
Address
Magnusstrasse 11
12489 Berlin
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Karola Lehmann (Dr.)
GENOMIC INVESTMENTS BV
Netherlands
EU contribution
€ 819 000
Address
Plesmanlaan 1D
2333 BZ Leiden
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Bart Janssen (Prof.)
ARS CONSULTING SRL
Italy
EU contribution
€ 130 800
Address
Via Sebastiano Grandis 1
00185 Roma
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Alberto Sciuto (Mr.)
CHILDREN'S HEALTH QUEENSLAND HOSPITAL AND HEALTH SERVICE
Australia
Address
Lady Cilento Childrens Hospital, 501 Stanley Street
QLD 4101 Brisbane
Activity type
Research Organisations
Administrative Contact
Riney Chaterine (Dr.)
GenomeScan B.V.
Netherlands
Address
Plesmanlaan 1D
2333 BZ Leiden
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Juliette Both (Mrs.)