A survey of the European Reference Network EpiCARE on clinical
practice for selected rare epilepsies

J 2021

A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies

BAUMGARTNER, T., M. CARRENO, R. ROCAMORA, F. BISULLI, A. BONI et. al.

Basic information

Original name

A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies

Authors

BAUMGARTNER, T., M. CARRENO, R. ROCAMORA, F. BISULLI, A. BONI, Milan BRÁZDIL (203 Czech Republic, belonging to the institution), Ondřej HORÁK (203 Czech Republic, belonging to the institution), D. CRAIU, C. PEREIRA, R. GUERRINI, V. SAN ANTONIO-ARCE, A. SCHULZE-BONHAGE, S. M. ZUBERI, T. HALLBOOK, R. KALVIAINEN, L. LAGAE, S. NGUYEN, S. QUINTAS, A. FRANCO, J. H. CROSS, M. WALKER, A. ARZIMANOGLOU, S. RHEIMS, T. GRANATA, L. CANAFOGLIA, C. J. LANDMARK, A. SEN, R. RATTIHALLI, R. NABBOUT, E. TARTARA, M. SANTOS, R. RANGEL, P. KRSEK, P. MARUSIC, N. SPECCHIO, K. P. J. BRAUN, P. SMEYERS, V. VILLANUEVA, K. KOTULSKA and R. SURGES (guarantor)

Edition

Epilepsia Open, HOBOKEN, WILEY, 2021, 2470-9239

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30210 Clinical neurology

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 4.026

RIV identification code

RIV/00216224:14110/21:00122123

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1002/epi4.12459

UT WoS

000648553600018

Keywords in English

autoimmune encephalitis; Dravet syndrome; orphan disease; progressive myoclonic epilepsy; targeted therapies; tuberous sclerosis complex

Abstract

V originále

ObjectiveClinical care of rare and complex epilepsies is challenging, because evidence-based treatment guidelines are scarce, the experience of many physicians is limited, and interdisciplinary treatment of comorbidities is required. The pathomechanisms of rare epilepsies are, however, increasingly understood, which potentially fosters novel targeted therapies. The objectives of our survey were to obtain an overview of the clinical practice in European tertiary epilepsy centers treating patients with 5 arbitrarily selected rare epilepsies and to get an estimate of potentially available patients for future studies. MethodsMembers of the European Reference Network for rare and complex epilepsies (EpiCARE) were invited to participate in a web-based survey on clinical practice of patients with Dravet syndrome, tuberous sclerosis complex (TSC), autoimmune encephalitis, and progressive myoclonic epilepsies including Unverricht Lundborg and Unverricht-like diseases. A consensus-based questionnaire was generated for each disease. ResultsTwenty-six of 30 invited epilepsy centers participated. Cohorts were present in most responding centers for TSC (87%), Dravet syndrome (85%), and autoimmune encephalitis (71%). Patients with TSC and Dravet syndrome represented the largest cohorts in these centers. The antiseizure drug treatments were rather consistent across the centers especially with regard to Dravet syndrome, infantile spasms in TSC, and Unverricht Lundborg / Unverricht-like disease. Available, widely used targeted therapies included everolimus in TSC and immunosuppressive therapies in autoimmune encephalitis. Screening for comorbidities was routinely done, but specific treatment protocols were lacking in most centers. SignificanceThe survey summarizes the current clinical practice for selected rare epilepsies in tertiary European epilepsy centers and demonstrates consistency as well as heterogeneity in the treatment, underscoring the need for controlled trials and recommendations. The survey also provides estimates for potential participants of clinical trials recruited via EpiCARE, emphasizing the great potential of Reference Networks for future studies to evaluate new targeted therapies and to identify novel biomarkers.

Citovat

BAUMGARTNER, T., M. CARRENO, R. ROCAMORA, F. BISULLI, A. BONI, Milan BRÁZDIL, Ondřej HORÁK, D. CRAIU, C. PEREIRA, R. GUERRINI, V. SAN ANTONIO-ARCE, A. SCHULZE-BONHAGE, S. M. ZUBERI, T. HALLBOOK, R. KALVIAINEN, L. LAGAE, S. NGUYEN, S. QUINTAS, A. FRANCO, J. H. CROSS, M. WALKER, A. ARZIMANOGLOU, S. RHEIMS, T. GRANATA, L. CANAFOGLIA, C. J. LANDMARK, A. SEN, R. RATTIHALLI, R. NABBOUT, E. TARTARA, M. SANTOS, R. RANGEL, P. KRSEK, P. MARUSIC, N. SPECCHIO, K. P. J. BRAUN, P. SMEYERS, V. VILLANUEVA, K. KOTULSKA and R. SURGES. A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies. Epilepsia Open. HOBOKEN: WILEY, 2021, vol. 6, No 1, p. 160-170. ISSN 2470-9239. Available from: https://dx.doi.org/10.1002/epi4.12459.

@article{1786841,
   author = {Baumgartner, T. and Carreno, M. and Rocamora, R. and Bisulli, F. and Boni, A. and Brázdil, Milan and Horák, Ondřej and Craiu, D. and Pereira, C. and Guerrini, R. and San AntonioandArce, V. and SchulzeandBonhage, A. and Zuberi, S. M. and Hallbook, T. and Kalviainen, R. and Lagae, L. and Nguyen, S. and Quintas, S. and Franco, A. and Cross, J. H. and Walker, M. and Arzimanoglou, A. and Rheims, S. and Granata, T. and Canafoglia, L. and Landmark, C. J. and Sen, A. and Rattihalli, R. and Nabbout, R. and Tartara, E. and Santos, M. and Rangel, R. and Krsek, P. and Marusic, P. and Specchio, N. and Braun, K. P. J. and Smeyers, P. and Villanueva, V. and Kotulska, K. and Surges, R.},
   article_location = {HOBOKEN},
   article_number = {1},
   doi = {http://dx.doi.org/10.1002/epi4.12459},
   keywords = {autoimmune encephalitis; Dravet syndrome; orphan disease; progressive myoclonic epilepsy; targeted therapies; tuberous sclerosis complex},
   language = {eng},
   issn = {2470-9239},
   journal = {Epilepsia Open},
   title = {A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies},
   url = {https://onlinelibrary.wiley.com/doi/10.1002/epi4.12459},
   volume = {6},
   year = {2021}
}

TY  - JOUR
ID  - 1786841
AU  - Baumgartner, T. - Carreno, M. - Rocamora, R. - Bisulli, F. - Boni, A. - Brázdil, Milan - Horák, Ondřej - Craiu, D. - Pereira, C. - Guerrini, R. - San Antonio-Arce, V. - Schulze-Bonhage, A. - Zuberi, S. M. - Hallbook, T. - Kalviainen, R. - Lagae, L. - Nguyen, S. - Quintas, S. - Franco, A. - Cross, J. H. - Walker, M. - Arzimanoglou, A. - Rheims, S. - Granata, T. - Canafoglia, L. - Landmark, C. J. - Sen, A. - Rattihalli, R. - Nabbout, R. - Tartara, E. - Santos, M. - Rangel, R. - Krsek, P. - Marusic, P. - Specchio, N. - Braun, K. P. J. - Smeyers, P. - Villanueva, V. - Kotulska, K. - Surges, R.
PY  - 2021
TI  - A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies
JF  - Epilepsia Open
VL  - 6
IS  - 1
SP  - 160-170
EP  - 160-170
PB  - WILEY
SN  - 24709239
KW  - autoimmune encephalitis
KW  - Dravet syndrome
KW  - orphan disease
KW  - progressive myoclonic epilepsy
KW  - targeted therapies
KW  - tuberous sclerosis complex
UR  - https://onlinelibrary.wiley.com/doi/10.1002/epi4.12459
N2  - ObjectiveClinical care of rare and complex epilepsies is challenging, because evidence-based treatment guidelines are scarce, the experience of many physicians is limited, and interdisciplinary treatment of comorbidities is required. The pathomechanisms of rare epilepsies are, however, increasingly understood, which potentially fosters novel targeted therapies. The objectives of our survey were to obtain an overview of the clinical practice in European tertiary epilepsy centers treating patients with 5 arbitrarily selected rare epilepsies and to get an estimate of potentially available patients for future studies. MethodsMembers of the European Reference Network for rare and complex epilepsies (EpiCARE) were invited to participate in a web-based survey on clinical practice of patients with Dravet syndrome, tuberous sclerosis complex (TSC), autoimmune encephalitis, and progressive myoclonic epilepsies including Unverricht Lundborg and Unverricht-like diseases. A consensus-based questionnaire was generated for each disease. ResultsTwenty-six of 30 invited epilepsy centers participated. Cohorts were present in most responding centers for TSC (87%), Dravet syndrome (85%), and autoimmune encephalitis (71%). Patients with TSC and Dravet syndrome represented the largest cohorts in these centers. The antiseizure drug treatments were rather consistent across the centers especially with regard to Dravet syndrome, infantile spasms in TSC, and Unverricht Lundborg / Unverricht-like disease. Available, widely used targeted therapies included everolimus in TSC and immunosuppressive therapies in autoimmune encephalitis. Screening for comorbidities was routinely done, but specific treatment protocols were lacking in most centers. SignificanceThe survey summarizes the current clinical practice for selected rare epilepsies in tertiary European epilepsy centers and demonstrates consistency as well as heterogeneity in the treatment, underscoring the need for controlled trials and recommendations. The survey also provides estimates for potential participants of clinical trials recruited via EpiCARE, emphasizing the great potential of Reference Networks for future studies to evaluate new targeted therapies and to identify novel biomarkers.
ER  -

BAUMGARTNER, T., M. CARRENO, R. ROCAMORA, F. BISULLI, A. BONI, Milan BRÁZDIL, Ondřej HORÁK, D. CRAIU, C. PEREIRA, R. GUERRINI, V. SAN ANTONIO-ARCE, A. SCHULZE-BONHAGE, S. M. ZUBERI, T. HALLBOOK, R. KALVIAINEN, L. LAGAE, S. NGUYEN, S. QUINTAS, A. FRANCO, J. H. CROSS, M. WALKER, A. ARZIMANOGLOU, S. RHEIMS, T. GRANATA, L. CANAFOGLIA, C. J. LANDMARK, A. SEN, R. RATTIHALLI, R. NABBOUT, E. TARTARA, M. SANTOS, R. RANGEL, P. KRSEK, P. MARUSIC, N. SPECCHIO, K. P. J. BRAUN, P. SMEYERS, V. VILLANUEVA, K. KOTULSKA and R. SURGES. A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies. \textit{Epilepsia Open}. HOBOKEN: WILEY, 2021, vol.~6, No~1, p.~160-170. ISSN~2470-9239. Available from: https://dx.doi.org/10.1002/epi4.12459.

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