The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic

Matthew S. Gentry; Zaid Afawi; Dustin D. Armstrong; Antonio Delgado-Escueta; Y. Paul Goldberg; Tamar R. Grossman; Joan J. Guinovart; Frank Harris; Thomas D. Hurley; Roberto Michelucci; Berge A. Minassian; Pascual Sanz; Carolyn A. Worby; Jose M. Serratosa

doi:10.1016/j.yebeh.2019.106839

The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic

Matthew S. Gentry, Zaid Afawi, Dustin D. Armstrong, Antonio Delgado-Escueta, Y. Paul Goldberg, Tamar R. Grossman, Joan J. Guinovart, Frank Harris, Thomas D. Hurley, Roberto Michelucci, Berge A. Minassian, Pascual Sanz, Carolyn A. Worby, Jose M. Serratosa

Research output: Contribution to journal › Article › peer-review

15 Scopus citations

Abstract

Lafora disease (LD) is both a fatal childhood epilepsy and a glycogen storage disease caused by recessive mutations in either the Epilepsy progressive myoclonus 2A (EPM2A) or EPM2B genes. Hallmarks of LD are aberrant, cytoplasmic carbohydrate aggregates called Lafora bodies (LBs) that are a disease driver. The 5th International Lafora Epilepsy Workshop was recently held in Alcala de Henares, Spain. The workshop brought together nearly 100 clinicians, academic and industry scientists, trainees, National Institutes of Health (NIH) representation, and friends and family members of patients with LD. The workshop covered aspects of LD ranging from defining basic scientific mechanisms to elucidating a LD therapy or cure and a recently launched LD natural history study.

Original language	English
Article number	106839
Journal	Epilepsy and Behavior
Volume	103
DOIs	https://doi.org/10.1016/j.yebeh.2019.106839
State	Published - Feb 2020

Bibliographical note

Funding Information:
Lafora disease (LD) is a fatal, autosomal recessive glycogen storage disease that results in progressive neurodegeneration with epilepsy, dementia, and myoclonus [ 1–3 ]. Patients present with an epileptic event in their early to mid-teen years, and these episodes along with the cognitive decline and myoclonus progressively increase until death approximately 10 years later because of respiratory complications, sudden unexpected death (SUDEP), or a massive epileptic event [ 4 , 5 ]. The National Institutes of Neurological Disease and Stroke (NINDS) of the National Institutes of Health (NIH) funded a program project grant in 2016 bringing together the top LD laboratories to define the basic mechanisms of LD and develop therapeutic options [ 2 , 6 , 7 ]. This grant established the Lafora Epilepsy Cure Initiative (LECI) that is directed by Dr. Matthew Gentry, Professor at the University of Kentucky College of Medicine ( Fig. 1 ). The LECI is comprised of researchers at University of Kentucky, Indiana University, University of Texas-Southwestern, UC-San Diego, Fundación Jimenez Díaz (Madrid), Institute for Research in Biomedicine (Barcelona), and Institute of Biomedicine of Valencia (IBV-CSIC).

Funding Information:
Research reported in this publication was supported by the National Institute of Neurological Disorders and Stroke of the National Institutes of Health under Award Numbers R01NS070899 (MSG) and P01NS097197 (MSG), the Spanish Ministry of Education and Science Award Number SAF2017-83151-R (PS), a grant from the Fundacion Ramon Areces CIVP18A3935 (PS), Spanish MINECO BFU2017-84345-P (JJG), Valerion Therapeutics (MSG), and Ionis Pharmaceuticals . We thank Ms. Cheylene Plummer at the University of Kentucky College of Medicine for logistical support and planning the event. We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.

Funding Information:
The 5th International Lafora Epilepsy Workshop was held at the Parador in Alcala de Henares, Spain on September 8–11, 2019. The workshop was organized and hosted by Drs. Jose Serratosa (Fundación Jimènez Díaz, Madrid, Spain) and Matthew Gentry; and it was sponsored by NINDS (P01 NS097197), Ionis Pharmaceuticals, Valerion Therapeutics, Maze Therapeutics, Chelsea's Hope, and the University of Kentucky College of Medicine. The workshop is a unique blend of clinicians; scientists from academia, industry, and the NIH; trainees; friends and family members of patients with LD; and a patient with LD with approximately 100 representatives from the United States, Spain, Canada, Israel, Hungary, Slovakia, Russia, Honduras, Turkey, India, Italy, France, Australia, and the Netherlands ( Fig. 2 ). The singular goal of this diverse group is to accelerate LD research to bring a LD therapy or cure to patients.

Publisher Copyright:
© 2019 Elsevier Inc.

Keywords

Glycogen
Glycogen storage disease
Lafora disease
Neurodegeneration
Progressive myoclonus epilepsy

ASJC Scopus subject areas

Neurology
Clinical Neurology
Behavioral Neuroscience

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10.1016/j.yebeh.2019.106839

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Gentry, M. S., Afawi, Z., Armstrong, D. D., Delgado-Escueta, A., Goldberg, Y. P., Grossman, T. R., Guinovart, J. J., Harris, F., Hurley, T. D., Michelucci, R., Minassian, B. A., Sanz, P., Worby, C. A., & Serratosa, J. M. (2020). The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic. Epilepsy and Behavior, 103, Article 106839. https://doi.org/10.1016/j.yebeh.2019.106839

@article{16ebc7a740674005bf83c7655e1be2ff,

title = "The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic",

abstract = "Lafora disease (LD) is both a fatal childhood epilepsy and a glycogen storage disease caused by recessive mutations in either the Epilepsy progressive myoclonus 2A (EPM2A) or EPM2B genes. Hallmarks of LD are aberrant, cytoplasmic carbohydrate aggregates called Lafora bodies (LBs) that are a disease driver. The 5th International Lafora Epilepsy Workshop was recently held in Alcala de Henares, Spain. The workshop brought together nearly 100 clinicians, academic and industry scientists, trainees, National Institutes of Health (NIH) representation, and friends and family members of patients with LD. The workshop covered aspects of LD ranging from defining basic scientific mechanisms to elucidating a LD therapy or cure and a recently launched LD natural history study.",

keywords = "Glycogen, Glycogen storage disease, Lafora disease, Neurodegeneration, Progressive myoclonus epilepsy",

author = "Gentry, {Matthew S.} and Zaid Afawi and Armstrong, {Dustin D.} and Antonio Delgado-Escueta and Goldberg, {Y. Paul} and Grossman, {Tamar R.} and Guinovart, {Joan J.} and Frank Harris and Hurley, {Thomas D.} and Roberto Michelucci and Minassian, {Berge A.} and Pascual Sanz and Worby, {Carolyn A.} and Serratosa, {Jose M.}",

note = "Funding Information: Lafora disease (LD) is a fatal, autosomal recessive glycogen storage disease that results in progressive neurodegeneration with epilepsy, dementia, and myoclonus [ 1–3 ]. Patients present with an epileptic event in their early to mid-teen years, and these episodes along with the cognitive decline and myoclonus progressively increase until death approximately 10 years later because of respiratory complications, sudden unexpected death (SUDEP), or a massive epileptic event [ 4 , 5 ]. The National Institutes of Neurological Disease and Stroke (NINDS) of the National Institutes of Health (NIH) funded a program project grant in 2016 bringing together the top LD laboratories to define the basic mechanisms of LD and develop therapeutic options [ 2 , 6 , 7 ]. This grant established the Lafora Epilepsy Cure Initiative (LECI) that is directed by Dr. Matthew Gentry, Professor at the University of Kentucky College of Medicine ( Fig. 1 ). The LECI is comprised of researchers at University of Kentucky, Indiana University, University of Texas-Southwestern, UC-San Diego, Fundaci{\'o}n Jimenez D{\'i}az (Madrid), Institute for Research in Biomedicine (Barcelona), and Institute of Biomedicine of Valencia (IBV-CSIC). Funding Information: Research reported in this publication was supported by the National Institute of Neurological Disorders and Stroke of the National Institutes of Health under Award Numbers R01NS070899 (MSG) and P01NS097197 (MSG), the Spanish Ministry of Education and Science Award Number SAF2017-83151-R (PS), a grant from the Fundacion Ramon Areces CIVP18A3935 (PS), Spanish MINECO BFU2017-84345-P (JJG), Valerion Therapeutics (MSG), and Ionis Pharmaceuticals . We thank Ms. Cheylene Plummer at the University of Kentucky College of Medicine for logistical support and planning the event. We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines. Funding Information: The 5th International Lafora Epilepsy Workshop was held at the Parador in Alcala de Henares, Spain on September 8–11, 2019. The workshop was organized and hosted by Drs. Jose Serratosa (Fundaci{\'o}n Jim{\`e}nez D{\'i}az, Madrid, Spain) and Matthew Gentry; and it was sponsored by NINDS (P01 NS097197), Ionis Pharmaceuticals, Valerion Therapeutics, Maze Therapeutics, Chelsea's Hope, and the University of Kentucky College of Medicine. The workshop is a unique blend of clinicians; scientists from academia, industry, and the NIH; trainees; friends and family members of patients with LD; and a patient with LD with approximately 100 representatives from the United States, Spain, Canada, Israel, Hungary, Slovakia, Russia, Honduras, Turkey, India, Italy, France, Australia, and the Netherlands ( Fig. 2 ). The singular goal of this diverse group is to accelerate LD research to bring a LD therapy or cure to patients. Publisher Copyright: {\textcopyright} 2019 Elsevier Inc.",

year = "2020",

month = feb,

doi = "10.1016/j.yebeh.2019.106839",

language = "English",

volume = "103",

}

Gentry, MS, Afawi, Z, Armstrong, DD, Delgado-Escueta, A, Goldberg, YP, Grossman, TR, Guinovart, JJ, Harris, F, Hurley, TD, Michelucci, R, Minassian, BA, Sanz, P, Worby, CA & Serratosa, JM 2020, 'The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic', Epilepsy and Behavior, vol. 103, 106839. https://doi.org/10.1016/j.yebeh.2019.106839

TY - JOUR

T1 - The 5th International Lafora Epilepsy Workshop

T2 - Basic science elucidating therapeutic options and preparing for therapies in the clinic

AU - Gentry, Matthew S.

AU - Afawi, Zaid

AU - Armstrong, Dustin D.

AU - Delgado-Escueta, Antonio

AU - Goldberg, Y. Paul

AU - Grossman, Tamar R.

AU - Guinovart, Joan J.

AU - Harris, Frank

AU - Hurley, Thomas D.

AU - Michelucci, Roberto

AU - Minassian, Berge A.

AU - Sanz, Pascual

AU - Worby, Carolyn A.

AU - Serratosa, Jose M.

N1 - Funding Information: Lafora disease (LD) is a fatal, autosomal recessive glycogen storage disease that results in progressive neurodegeneration with epilepsy, dementia, and myoclonus [ 1–3 ]. Patients present with an epileptic event in their early to mid-teen years, and these episodes along with the cognitive decline and myoclonus progressively increase until death approximately 10 years later because of respiratory complications, sudden unexpected death (SUDEP), or a massive epileptic event [ 4 , 5 ]. The National Institutes of Neurological Disease and Stroke (NINDS) of the National Institutes of Health (NIH) funded a program project grant in 2016 bringing together the top LD laboratories to define the basic mechanisms of LD and develop therapeutic options [ 2 , 6 , 7 ]. This grant established the Lafora Epilepsy Cure Initiative (LECI) that is directed by Dr. Matthew Gentry, Professor at the University of Kentucky College of Medicine ( Fig. 1 ). The LECI is comprised of researchers at University of Kentucky, Indiana University, University of Texas-Southwestern, UC-San Diego, Fundación Jimenez Díaz (Madrid), Institute for Research in Biomedicine (Barcelona), and Institute of Biomedicine of Valencia (IBV-CSIC). Funding Information: Research reported in this publication was supported by the National Institute of Neurological Disorders and Stroke of the National Institutes of Health under Award Numbers R01NS070899 (MSG) and P01NS097197 (MSG), the Spanish Ministry of Education and Science Award Number SAF2017-83151-R (PS), a grant from the Fundacion Ramon Areces CIVP18A3935 (PS), Spanish MINECO BFU2017-84345-P (JJG), Valerion Therapeutics (MSG), and Ionis Pharmaceuticals . We thank Ms. Cheylene Plummer at the University of Kentucky College of Medicine for logistical support and planning the event. We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines. Funding Information: The 5th International Lafora Epilepsy Workshop was held at the Parador in Alcala de Henares, Spain on September 8–11, 2019. The workshop was organized and hosted by Drs. Jose Serratosa (Fundación Jimènez Díaz, Madrid, Spain) and Matthew Gentry; and it was sponsored by NINDS (P01 NS097197), Ionis Pharmaceuticals, Valerion Therapeutics, Maze Therapeutics, Chelsea's Hope, and the University of Kentucky College of Medicine. The workshop is a unique blend of clinicians; scientists from academia, industry, and the NIH; trainees; friends and family members of patients with LD; and a patient with LD with approximately 100 representatives from the United States, Spain, Canada, Israel, Hungary, Slovakia, Russia, Honduras, Turkey, India, Italy, France, Australia, and the Netherlands ( Fig. 2 ). The singular goal of this diverse group is to accelerate LD research to bring a LD therapy or cure to patients. Publisher Copyright: © 2019 Elsevier Inc.

PY - 2020/2

Y1 - 2020/2

N2 - Lafora disease (LD) is both a fatal childhood epilepsy and a glycogen storage disease caused by recessive mutations in either the Epilepsy progressive myoclonus 2A (EPM2A) or EPM2B genes. Hallmarks of LD are aberrant, cytoplasmic carbohydrate aggregates called Lafora bodies (LBs) that are a disease driver. The 5th International Lafora Epilepsy Workshop was recently held in Alcala de Henares, Spain. The workshop brought together nearly 100 clinicians, academic and industry scientists, trainees, National Institutes of Health (NIH) representation, and friends and family members of patients with LD. The workshop covered aspects of LD ranging from defining basic scientific mechanisms to elucidating a LD therapy or cure and a recently launched LD natural history study.

AB - Lafora disease (LD) is both a fatal childhood epilepsy and a glycogen storage disease caused by recessive mutations in either the Epilepsy progressive myoclonus 2A (EPM2A) or EPM2B genes. Hallmarks of LD are aberrant, cytoplasmic carbohydrate aggregates called Lafora bodies (LBs) that are a disease driver. The 5th International Lafora Epilepsy Workshop was recently held in Alcala de Henares, Spain. The workshop brought together nearly 100 clinicians, academic and industry scientists, trainees, National Institutes of Health (NIH) representation, and friends and family members of patients with LD. The workshop covered aspects of LD ranging from defining basic scientific mechanisms to elucidating a LD therapy or cure and a recently launched LD natural history study.

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KW - Neurodegeneration

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The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic

Abstract

Bibliographical note

Keywords

ASJC Scopus subject areas

Access to Document

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