Clinical trial NCT02229032: Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet Population
Official title: Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet Population
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Dravet Syndrome
Keywords: Dravet Syndrome
cannabidiol therapy
Charlotte's Web
Lead sponsor: University of Colorado, Denver
Sponsor class: OTHER
Collaborators: name: Denver Health Medical Center
First posted: 2014-08-29
Enrollment: 19
Sex: ALL
Maximum age (years): 50
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with Dravet Syndrome, ages 1-50, who are 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

Brief summary: 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.


Eligibility criteria: 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

Primary outcomes:
measure: 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.
timeFrame: 1 day
Secondary outcomes:
Other outcomes:
Locations:
city: Denver
country: United States
facility: Denver Health Medical Center
state: Colorado
Study officials:
affiliation: Denver Health Medical Center
name: Edward Maa, MD
role: PRINCIPAL_INVESTIGATOR
References: