Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet Population

There is tremendous curiosity about medical marijuana and the treatment of epilepsy. In a specific genetic epilepsy known as Dravet Syndrome, a mutation occurs affecting the SCN1A gene. A specific strain of marijuana known as Charlotte's Web, available in Colorado, may have activity in this catastrophic epilepsy syndrome. Anecdotal reports suggest both success and lack of response with this therapy. Genetic analysis of the differences between Dravet responders and non-responders may prove useful for identifying patients likely to be helped by this therapy, as well as shed light on the putative mechanisms by which marijuana may exert any antiepileptic effect.

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Key information

Conditions

Dravet Syndrome Brain Diseases Central Nervous System Diseases Epilepsies, Myoclonic Epilepsy Epilepsy, Generalized Epileptic Syndromes Nervous System Diseases

Age range

Up to 50 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Denver Health Medical Center

Denver, Colorado, 80204, United States

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

age 1-50 with gene confirmed Dravet Syndrome
uncontrolled epilepsy, having failed at least 2 prior treatments (including appropriate Anti-epileptic drugs, ketogenic diet, vagus nerve stimulation Therapy)
Seizure frequency should be more than 2 visually countable motor seizures per week (tonic clonic, tonic, clonic, myoclonic, or astatic)
care providers able to identify convulsive seizures, drop attacks, or tonic seizures, or any combination of countable seizure types
self- seeking therapy with Charlotte's Web strain of medical marijuana with the assistance of a medical marijuana doctor, but are still naïve to therapy
care provider able to complete seizure count diary
able to obtain oral swab sample from subject with Dravet Syndrome
agree to forfeit any right to results of genetic analysis

Exclusion criteria

subjects having non-epileptic seizures that are not distinguishable from epileptic seizures by the care provider
prisoners
pregnant women
failure to forfeit right to results of genetic analysis

Treatment and study plan

Primary outcomes

genetic differences between patients with Dravet Syndrome (SCN1A gene mutation) who appear to respond to high concentration cannabidiol (CBD) oil therapy versus those who do not.

Time frame: 1 day

Patients completing three months of therapy with a seizure reduction of >50% will be designated a "Responder" and patients who discontinue therapy for any reason prior to 3 months or have a <=50% seizure reduction will be designated "Non-Responder". Between-groups genetic analysis will be performed

Sponsors and collaborators

Lead sponsor

University of Colorado, Denver

Other

Collaborators

Denver Health Medical Center

Registry information

Important dates

Study start: 2014
Primary completion: 2017
Study completion: 2017
First posted: Aug 29, 2014
Registry last updated: Dec 15, 2017

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

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