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

NCT02229032 | Completed

• 1 other identifier: 14-0294
• Study Type: observational
• Target: 19
• Locations: 1 country
• Sites: 1

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.

Conditions

Dravet Syndrome

Keywords

Dravet Syndrome; cannabidiol therapy; Charlotte's Web

Outcome Measures

Primary Outcomes (1)

• 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.

  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

  1 day

Study Arms (1)

Dravet Sydrome

Patients with Dravet Syndrome 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

Eligibility Criteria

• Age: Up to 50 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• 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

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University of Colorado, Denver: lead
• Denver Health Medical Center: collaborator

Study Sites (1)

Denver Health Medical Center

Denver, Colorado, 80204, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

saliva for DNA analysis

MeSH Terms

Conditions

Epilepsies, Myoclonic

Condition Hierarchy (Ancestors)

Epilepsy, Generalized; Epilepsy; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Epileptic Syndromes

Study Officials

• Edward Maa, MD

  Denver Health Medical Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 27, 2014
• First Posted: August 29, 2014
• Study Start: August 1, 2014
• Primary Completion: July 1, 2017
• Study Completion: July 1, 2017
• Last Updated: December 15, 2017

Record last verified: 2017-12

Locations

US (1)