Veronica Hood

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So far Veronica Hood has created 15 blog entries.

ENVISION: A 2-year observational study of Dravet syndrome

By |2020-09-17T22:26:32-05:00September 18th, 2020|Categories: Decoding Dravet Blog|

The Dravet syndrome community has long been awaiting gene therapy approaches to provide true disease-modifying treatments. We now watch optimistically as new therapies are in final stages of pre-clinical development or are beginning early-phase clinical trials. One of the challenges of these types of gene-based therapies entering human clinical trials is that a placebo-control approach [...]

EpyGenix Launches Phase II Trial for EPX-100

By |2020-09-07T00:12:10-05:00September 4th, 2020|Categories: Decoding Dravet Blog|

EpyGenix Therapeutics, in partnership with Greenlight Clinical, is currently enrolling a Phase II, multicenter, randomized, double-blind, placebo-control clinical trial for EPX-100 (Clemizole Hydrochloride, oral solution) in children diagnosed with Dravet syndrome. In January 2020, Epygenix announced the completion of Phase I trials for EPX-100, establishing the safety of EPX-100 in healthy subjects and clearing the [...]

Antisense oligonucleotides increase Scn1a expression and reduce seizures and SUDEP incidence in a mouse model of Dravet syndrome.

By |2020-09-08T18:24:56-05:00September 4th, 2020|Categories: DSF Research Review|Tags: , , , |

Just last month, a previous research review detailed how Stoke Therapeutics developed their targeted augmentation of nuclear gene output (TANGO), utilizing anti-sense oligonucleotides (ASOs) to upregulate expression of several genes, including SCN1A, in human cells and mouse brain. ASOs are single-stranded RNAs that bind to target RNA sequences and have the potential to alter the [...]

Focal epilepsy in SCN1A-mutation carrying patients: is there a role for epilepsy surgery?

By |2020-08-23T23:03:55-05:00August 28th, 2020|Categories: DSF Research Review|Tags: , , , |

In this brief report published in June, Vezyroglou et al detail the results of epilepsy surgery for focal seizures in 8 patients carrying mutations in the SCN1A gene that were predicted to be causal. Three of the 8 patients had a clinical diagnosis of Dravet syndrome. The surgical procedures were successful in reducing or eliminating [...]

Electrophysiological alterations of pyramidal cells and interneurons of the CA1 region of the hippocampus in a novel mouse model of Dravet syndrome

By |2020-08-24T12:16:38-05:00August 24th, 2020|Categories: DSF Research Review|Tags: , , , |

In this paper, Dyment et al detail a new mouse for the study of Dravet syndrome modeled after a patient mutation. This particular mutation (H939R) does not result in the typical haploinsufficiency where Nav1.1 sodium channel levels are reduced, but rather appears to affect the function of one copy of the sodium channel. Consistent with [...]

Cardiovascular safety of fenfluramine in the treatment of Dravet syndrome: Analysis of an ongoing long-term open-label safety extension study

By |2020-08-24T12:35:41-05:00August 24th, 2020|Categories: DSF Research Review|Tags: , , , |

FINTEPLA (fenfluramine) was recently approved by the FDA for the treatment of seizures in Dravet syndrome. The FDA required Zogenix, Inc to include a black box warning on the label because fenfluramine belongs to a class of drugs that affect a specific serotonin receptor (5-HT2B), and these types of drugs have previously been associated with valvular [...]

Aberrant regulation of a poison exon caused by a non-coding variant in Scn1a-associated epileptic encephalopathy

By |2020-08-17T11:28:47-05:00August 19th, 2020|Categories: DSF Research Review|Tags: , , , |

In late June 2020, Voskobiynyk et al shared their recent manuscript on bioRxiv (pre-print before peer-review) detailing a novel mouse model of Dravet syndrome that carries the same mutation in a non-coding region as a patient diagnosed with Dravet syndrome. “Non-coding” means that the mutation is not located in an area of the DNA that [...]

MONARCH Study Update

By |2020-08-17T14:48:44-05:00August 18th, 2020|Categories: Research / Treatments|

First patient dosed with STK-001 in Part A of Phase 1/2a MONARCH clinical trial Stoke Therapeutics recently began the Monarch clinical trial and just announced that they have successfully administered STK-001 to the first patient in their trial. STK-001 is a novel disease-modifying therapy that utilizes RNA antisense oligonucleotides (ASOs) to restore levels [...]

Antisense oligonucleotide modulation of non-productive alternative splicing upregulates gene expression

By |2020-09-04T01:54:18-05:00August 13th, 2020|Categories: DSF Research Review|Tags: , , , |

Stoke Therapeutics published a paper in Nature Communications detailing the mechanism of action for their new TANGO (targeted augmentation of nuclear gene output) therapy that utilizes ASO (antisense oligonucleotide) technology. While the applications of this technology have been discussed in presentations and meetings, this is the first publication detailing how it was developed. Cells use [...]

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