REN November 2019
RARE EPILEPSY NETWORK (REN) NEWSLETTER
November 2019 Issue
Aaron’s Ohtahara International Rett Foundation Syndrome Foundation Aicardi Syndrome Foundation The Jack Pribaz Foundation Alternating Hemiplegia of Childhood KCNQ2 Cure Foundation Alliance
Aspire for a Cure Lennox-Gastaut Syndrome Bridge the Gap Foundation SYNGAP Liv4TheCure The Brain Recovery Project NORSE Institute
Carson Harris PCDH19 Alliance Foundation Inside this Issue: Phelan-McDermid CFC International Syndrome Foundation Chelsea’s Hope Pitt-Hopkins I. Upcoming events & News………..….….. p 2-6 The Cute Syndrome Research Foundation Foundation II. Active clinical trials and studies.….……. p 7
CSWS & ESES RASopathies Foundation Network III. About REN / Contact us ..….…………..… p 8
Doose Syndrome Ring 14 USA Epilepsy Alliance Outreach
Dravet Syndrome Ring 20 Foundation Chromosome Alliance Dup15q Alliance SLC6A1 Connect Hope for Hypothalamic Hamartomas TESS Foundation
Infantile Spasms Tuberous Sclerosis Community Alliance
International Wishes for Elliott Foundation for CDKL5 Research 1 REN November 2019
SAVE THE DATES
- KIm Rice
The 4th International Lafora Workshop was held in San Diego September 6 – 8, 2018, attended by nearly 100 scientists and clinicians from eight countries as well as 25 family members of Lafora patients.
Lafora research has progressed rapidly since the first Lafora Workshop in June, 2014, organized and funded by Chelsea’s Hope Lafora Research Fund. As a result of bringing together a handful of researchers working on REN workshop at the American this extremely rare orphan disease, the Lafora Epilepsy Epilepsy Society Meeting (AES) Cure Initiative (LECI) was formed and researchers are Sunday, December 8, 2019 now working collaboratively under a $9 million NIH grant. 12-2pm There are now two drug development companies (Ionis Hilton Baltimore, Baltimore, MD Pharmaceuticals and Valerion Therapeutics) More details to come soon. collaborating in a natural history study to establish clinical benchmarks and biomarkers for disease progression. Enrollment in this study has already begun. The hope is 2020 Epilepsy Foundation that drugs currently still in preclinical development will be Pipeline Conference & ready to begin clinical trials shortly after the conclusion of Community Day the natural history study, which is expected to be Santa Clara, CA completed in two to three years. March 12-14, 2020 One of the major steps forward in understanding the Community Day takes place pathophysiology of Lafora Disease has been the Saturday, March 14th. More realization that it is the build-up of abnormal glycogen (a details about the agenda, speakers and registration to come starch) in brain cells that leads to cellular malfunction and in the following months! ultimately cell death. It is therefore quite similar to other far more common glycogen storage diseases such as Pompe Disease. Valerion is working on drugs that can SLC13A5 Research Roundtable deliver amylase, an enzyme that breaks down starch, into March 23, 2020 cells. One of these is already in Phase 1 clinical trials for Pompe Disease and holds great promise for the Dallas, TX treatment of Lafora Disease in the near future. Ionis Hosted by TESS Research Pharmaceuticals is working on a different approach - the Foundation disruption of glycogen synthesis in brain cells - which has been shown to halt disease progression in mice.
A 5th Workshop will be held in Madrid, and a summary will follow!