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Cognitive Dysfunction

Klippel-Trenaunay-Weber Syndrome

Sturge-Weber Syndrome

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Klippel-Trenaunay Syndrome

Parkes Weber Syndrome

Weber Syndrome

Pharmaceutical Solutions

All Drugs and Chemicals

Anticonvulsants

Cannabidiol

All subjects will receive the experimental Epidiolex (cannabidiol) oral solution to be taken at home twice a day, and will be treated on an outpatient basis. The drug will be taken for 24 weeks unless the subject chooses to participate in the extension phase of the study, in which case the subject will continue to receive the drug for one additional year or until the drug is approved for clinical use for the treatment of cognitive impairments in patients with Sturge-Weber syndrome.

Initiation of treatment will begin with 5 mg/kg/day given in two divided doses. The dose will be increased by 5 mg/kg/day after seven days and then by 5 mg/kg/day every seven days up to a maximum dose of 20 mg/kg/day given.

Anne M Comi, MD

The purpose of this study is to better understand the utility of cannabidiol (CBD/ Epidiolex) for improving the treatment of cognitive impairments in Sturge-Weber syndrome (SWS).

The investigators hope to gain an understanding of the utility of pharmaceutical grade CBD used for the treatment of cognitive impairments in SWS in this open-label study. Anecdotal evidence from a phase I trial investigating the use of CBD for medically refractory seizures suggests CBD may also have a beneficial effect on cognition, mood, and behavior. The investigators hypothesize that CBD/ Epidiolex will improve SWS brain function resulting in improved cognitive function, social interactions, mood, motor function and behavior, as well as reduced migraines. This is an open-label prospective oral drug trial of Epidiolex in 10 subjects. Assessments will be done at baseline and repeated after 6 months on study drug.

Novel Cognitive Treatment Targets for Epidiolex in Sturge- Weber Syndrome

Novel Cognitive Treatment Targets for Epidiolex in Sturge- Weber Syndrome: A Phase II Trial

Data on cognitive function was collected using the List Sorting Working Memory Test from the NIH Toolbox. Data was collected on working memory performance, which was transformed into a t-score from 0 to 100 where a higher t-score indicates better performance. T-score of 50 indicates the population mean with a standard deviation of 10. Data was collected at baseline and after 6 months on study drug.

Data on cognitive function was collected using the Picture Vocabulary subtest from the NIH Toolbox. Single words are presented via an audio file, paired simultaneously with 4 screen images of objects, actions, and/or depictions of concepts. The task is to pick the picture that matches the spoken word. Performance on the task was transformed into a t-score from 0 to 100 where a higher t-score indicates better performance. T-score of 50 indicates the population mean with a standard deviation of 10. Data was collected at baseline and after 6 months on study drug.

Change in seizure frequency by seizure score at pre-treatment baseline and after six months. The seizure score is taken from the Sturge-Weber Neuroscore on a scale of 0 to 4 where 0=none, 1=1+. but controlled, 2=Breakthrough, 3=monthly, 4=Weekly+. Higher scores indicate worse outcome.

Data on migraine severity will be collected using patient responses to questions on a standard six-point scale. Data will be collected on the frequency of an event (e.g. feelings of frustration, performance of daily activities) which will be transformed into a score from 0 to 100 where higher scores indicate a less migraine severity and better outcomes. Data will be collected at baseline and after 6 months on study drug.

Data on motor function was collected using a Modified House Classification. Data was collected on the ability to complete a task with the subject's non-dominant hand which was transformed into a score from 1 to 8 and 0 to 32 where higher scores indicate better motor function. Data was collected at baseline and after 6 months on study drug.

Data on motor function was collected using the Erhardt Developmental Prehension assessment. Data was collected on the ability to complete a task with each hand, which was scored as age equivalence of task performance (in months). Higher scores indicate better motor function. Data was collected at baseline and after 6 months on study drug.

Data on motor function was collected using the Pediatric Evaluation of Disability Inventory Computer Adapted Test. Data was collected on the subject's ability to complete tasks involved in daily activities, mobility, and social/ cognitive activities. The data was transformed into scaled scores ranging from 20 to 80, where higher scores indicate better motor function. Data was collected at baseline and after 6 months on study drug.

Data on motor function was collected using the ABILHAND questionnaire, a measure of manual ability for adults with upper limb impairments. Data was collected on the subject's ability to complete daily activities that involve the upper limbs. Score was collected as a patient measure with scores ranging from -10 to 10. Higher scores indicate better motor function. Data was collected at baseline and after 6 months on study drug.

Data on cognitive function was collected using selected subtests, from either the Wechsler Intelligence Scale for Children, Fifth Edition (WISC-V) or the Wechsler Adult Intelligence Scale (WAIS-IV). For the WISC-V and WAIS-IV subtests selected, scaled scores were derived from the normative data which account for age and demographic information. The selected WISC-V/WAIS-IV subtests were as follows: Digit Span, Symbol Search, Coding and Processing Speed; the first three subtests were scored from 0-10, the fourth subtest from 0-100, and for all subtests higher score is better. The selected subtests, from the WISC-V and the WAIS-IV, were combined to increase statistical power.

Statistically rare changes in individual test scores were determined using a reliable change index methodology based upon normative information for these assessments.

Data on cognitive function was collected using Neurological Quality of Life scales from the NIH Toolbox. Data on frequency of an event (e.g. forgetting schoolwork) was collected and transformed into a t-score from 0 to 100 where higher t-scores indicate worse anger, worse anxiety, worse pain, better social relationships, worse stigma, worse depression, better cognitive function, and worse fatigue. T-score of 50 indicates the population mean with a standard deviation of 10. Data was collected at baseline and 6 months on study drug.

Data on executive function was collected using the Behavior Rating Inventory of Executive Function, Second Edition (BRIEF-2). Data on the frequency of an event (e.g. becomes upset too easily) was collected and transformed into a t-score. The following BRIEF-2 subtests were evaluated: Behavioral Regulation Index, Emotional Regulation Index, Cognitive Regulation Index, and Global Executive Composite. For each BRIEF-2 subtest, t-scores range from 0 to 100; a score of 50 indicates the population mean with a standard deviation of 10. For all BASC-3 subtests, higher scores are worse outcome.

Data on social function was collected using the Social Responsiveness Scale-Second Edition (SRS-2). Data on a child's ability to engage in emotionally appropriate reciprocal social interactions in naturalistic settings was collected and transformed into a t-score from 0 to 100 where higher scores indicate greater impairment in social function. T-score of 50 indicates the population mean with a standard deviation of 10. Data was collected at baseline and 6 months on study drug.

Data on behavioral function was collected using the Behavioral Assessment System for Children, Third Edition (BASC-3). Data on the frequency of a behavior (e.g. avoids eye contact) was collected and transformed into a t-score. Subscales for the BASC-3 scored were: External Problems Composite, the Internal Problems Composite, the Behavioral Symptoms Index, and the Adaptive Skills Composite. For the first three subscales, lower t-score indicates better outcome; for the fourth, a lower t-score indicates worse outcome. T-scores for all the BASC-3 subscales range from 0 to 100, and a t-score of 50 indicates the population mean with a standard deviation of 10.

Data on anxiety was collected using the Screen for Child Anxiety Related Disorders (SCARED). Data on the truthfulness of a statement (e.g. I am nervous) was collected and transformed into a score from 0 to 82 where higher scores indicate greater anxiety. Data was collected at baseline and 6 months on study drug.

Data on quality of life was collected using the Quality of Life in Childhood Epilepsy Questionnaire (QOLCE-55). Data on the frequency of an event (e.g. had trouble concentrating on a task) was collected and transformed into a score from 0 to 100 where higher scores reflect better quality of life. Data was collected at baseline and 6 months on study drug.

Safety of Epidiolex was measured by the number of adverse events and serious adverse events that result from study drug.

Data on neurological function was collected using the Neuroscore. Data on frequency of seizures, extent of hemiparesis, assessment of visual field cut, and degree of cognitive functioning was transformed into a score from 0 to 15 where higher scores indicate worse neurologic function. Data was collected at baseline and 6 months on study drug.

Data on facial port-wine birthmarks was collected using the Port-wine Birthmark Score. Data on percent of face covered, thickness of birthmark, and darkness of birthmark color was collected and transformed into a score from 0 to 43 where higher scores indicate greater severity and greater surface area involved. Data was collected at baseline and 6 months on study drug.

Data on cognitive function was collected using Neurological Quality of Life scales from the NIH Toolbox. Data on frequency of an event was collected and transformed into a t-score from 0 to 100. Higher t-scores indicate better communication, better ability to participate in social activity, worse anxiety, worse depression, worse emotional and behavioral dyscontrol, worse fatigue, better positive affect, worse sleep disturbance, better lower and upper extremity functions, worse stigma, better satisfaction with social roles, and better cognitive function. T-score of 50 indicates the population mean with a standard deviation of 10. Data was collected at baseline and 6 months on study drug.

Jazz Pharmaceuticals

Faneca 66 Foundation

Anne Comi, MD

Principal Investigator, Director Sturge-Weber Center, Kennedy Krieger Institute, Professor Johns Hopkins University School of Medicine

Serious adverse events include those events that: result in death; are life-threatening; require hospitalization or prolongation of existing hospitalization; create persistent, significant disability, or birth defects.

Expected adverse events are those that are identified in the research protocol as having been previously associated with participation in the study. All reported adverse events will be classified using the Common Terminology Criteria for Adverse Events Version 4.0.

All subjects will receive the experimental Epidiolex (cannabidiol) oral solution to be taken at home twice a day, and will be treated on an outpatient basis. The drug will be taken for 24 weeks unless the subject chooses to participate in the extension phase of the study, in which case the subject will continue to receive the drug for one additional year or until the drug is approved for clinical use for the treatment of cognitive impairments in patients with Sturge-Weber syndrome.

Cannabidiol: Initiation of treatment will begin with 5 mg/kg/day given in two divided doses. The dose will be increased by 5 mg/kg/day after seven days and then by 5 mg/kg/day every seven days up to a maximum dose of 20 mg/kg/day given.

Cannabidiol/ Epidiolex

Subjects took oral cannabidiol for 6 months (doses ranged from 5 mg/kg/day to 20 mg/kg/day). Neuropsychological, psychiatrics and motor assessments were administered at baseline and six months follow-up.

Age, Continuous

Sex: Female, Male

Ethnicity (NIH/OMB)

Race (NIH/OMB)

United States

Region of Enrollment

Brain Involvement

Skin Involvement

Eye Involvement

Due to the COVID-19 , visits transitioned from an in-person setting to a remote setting. Four subjects had baseline testing conducted in person and follow-up virtually, and 5 subjects had both baseline and follow-up testing virtually. The differences in testing environment and the context of the pandemic may have affected results. Also, due to variability in subject age and the small number of subjects, some participants were outside of assessment age norms.

Dr. Anne Comi

Baseline List Sorting Working Memory Fully Adjusted Score

Follow-Up List Sorting Working Memory Fully Adjusted Score

Subject 1 was unable to complete this assessment due to lack of understanding of the instructions. Subject 10 was unable to complete this assessment due to a system error, where the fully adjusted score was not obtained. Subject 9 was withdrawn prior to the 6 month follow-up visit due to a persistent side effect and was not included in analysis.

List Sorting Working Memory Test

Baseline Mean of the Fully Adjusted Picture Vocabulary Score

Follow-up Mean of the Fully Adjusted Picture Vocabulary Score

Subject 10 did not complete this assessment due to a technical issue where the fully adjusted score was not calculated. Subject 9 was withdrawn from the study prior to the 6 month follow-up visit due to a persistent side effect and was not included in analysis.

Picture Vocabulary Test

Baseline Seizure Score from Sturge-Weber Neuroscore

Follow-up Seizure Score from Sturge-Weber Neuroscore

Subject 9 was withdrawn prior to the 6 month follow-up visit due to a persistent side effect and was not included in analysis.

Seizure Frequency

Baseline Mean Migraine-Quality of Life Score

Follow-up Mean Migraine-Quality of Life Score

Subject 7 misplaced this questionnaire and was not included in analysis. Subject 9 was withdrawn prior to the 6 month follow-up visit due to a persistent side effect and was not included in analysis.

Migraine Severity

Baseline Mean Highest Category in Which All Items were Successfully Completed

Follow-up Mean Highest Category in Which All Items were Successfully Completed

Baseline Mean Total Number of Items Successfully Completed

Follow-up Mean Total Number of Items Successfully Completed

Modified House Classification Scores

Baseline Mean Dominant Hand Total Score

Follow-up Mean Dominant Hand Total Score

Baseline Mean Non-Dominant Hand Total Score

Follow-up Mean Non-Dominant Hand Total Score

Erhardt Developmental Prehension Assessment Scores

Baseline Mean Score for Daily Activities

Follow-up Mean Score for Daily Activities

Baseline Mean Score for Mobility

Follow-Up Mean Score for Mobility

Baseline Mean Score for Responsibility

Follow-Up Mean Score for Responsibility

Baseline Mean Score for Social Cognitive

Follow-up Mean Score for Social Cognitive

Pediatric Evaluation of Disability Inventory Computer Adapted Test

Baseline Mean of the ABILHAND

Follow-up Mean of the ABILHAND

Subject 7 misplaced this questionnaire and was not included in analysis. Subject 9 was withdrawn prior to the 6 month follow-up visit due to persistent side effect and was not included in analysis.

ABILHAND Questionnaire

Baseline Mean Digit Span Score

Follow-up Mean Digit Span Score

Baseline Mean Symbol Search Score

Follow-up Mean Symbol Search Score

Baseline Mean Coding Score

Follow-up Mean Coding Score

Baseline Mean Processing Speed Score

Follow-up Mean Processing Speed Score

Subjects 1 and 10 did not complete this questionnaire as they were too young. Subject 9 was withdrawn prior to the 6 month follow-up visit due to a persistent side effect and was not included in analysis.

Wechsler Intelligence Scale for Children, Fifth Edition (WISC-V) or Wechsler Adult Intelligence Scale (WAIS-IV)

Baseline Mean Pediatric Score for Anger

Follow-up Mean Pediatric Score for Anger

Baseline Mean Pediatric Score for Anxiety

Follow-up Mean Pediatric Score for Anxiety

Baseline Mean Pediatric Score for Pain

Follow-up Mean Pediatric Score for Pain

Baseline Mean Pediatric Score for Social Relations

Follow-up Mean Pediatric Score for Social Relations

Baseline Mean Pediatric Score for Stigma

Follow-up Mean Pediatric Score for Stigma

Baseline Mean Pediatric Score for Depression

Follow-up Mean Pediatric Score for Depression

Baseline Mean Pediatric Score for Cognitive Function

Follow-up Mean Pediatric Score for Cognitive Function

Baseline Mean Pediatric Score for Fatigue

Follow-up Mean Pediatric Score for Fatigue

Subjects below the age of 18 completed the pediatric version of this questionnaire and were included in analysis.

Pediatric Neurological Quality of Life (Neuro-QoL)

Baseline Mean for Behavioral Regulation Index

Follow-Up Mean for Behavioral Regulation Index

Baseline Mean for Emotional Regulation Index

Follow-up Mean for Emotional Regulation Index

Baseline Mean for Cognitive Regulation Index

Follow-up Mean for Cognitive Regulation Index

Baseline Mean for Global Executive Composite

Follow-up Mean for Global Executive Composite

Behavior Rating Inventory of Executive Function, Second Edition (BRIEF-2)

Baseline Mean Total Score

Follow-up Mean Total Score

Social Responsiveness Scale, Second Edition (SRS-2)

Baseline Mean External Problems Composite

Follow-up Mean External Problems Composite

Baseline Mean Internal Problems Composite

Follow-Up Mean Internal Problems Composite

Baseline Mean Behavioral Symptoms Index

Follow-up Mean Behavioral Symptoms Index

Baseline Mean Adaptive Skills Composite

Follow-Up Mean Adaptive Skills Composite

Behavioral Assessment System for Children, Third Edition (BASC-3)

Baseline Mean of Total Score

Follow-up Mean of Total Score

Subject 7 misplaced this assessment and was not included in analysis. Subject 9 was withdrawn from the study prior to the 6 month follow-up visit due to a persistent side effect and was not included in analysis.

Screen for Child Anxiety Related Disorders (SCARED)

Subject 7 misplaced this assessment and was not included in analysis. Subject 9 was withdrawn prior to the 6 month follow-up appointment due to a persistent side effect and was not included in analysis.

Quality of Life in Childhood Epilepsy Questionnaire (QOLCE-55)

Number of Adverse Events that Resulted from the Study Drug

Number of Serious Adverse Events that Resulted from the Study Drug

Safety of Epidiolex

Baseline Mean Seizure Score

Follow-Up Mean Seizure Score

Baseline Mean Hemiparesis Score

Follow-Up Mean Hemiparesis Score

Baseline Mean Visual Field Cut Score

Follow-Up Mean Visual Field Cut Score

Baseline Mean Cognitive Function Score

Follow-up Mean Cognitive Function Score

Baseline Mean Composite Score

Follow-up Mean Composite Score

Subject 9 was withdrawn prior to the 6 month follow-up visit and not included in analysis.

Neuroscore

Subject 9 was withdrawn prior to the 6 month follow-up appointment and was not included in analysis.

Port-wine Birthmark Score

Baseline Mean Adult Score for Anxiety

Follow-Up Mean Adult Score for Anxiety

Baseline Mean Adult Score for Depression

Follow-Up Mean Adult Score for Depression

Baseline Mean Adult Score for Fatigue

Follow-Up Mean Adult Score for Fatigue

Baseline Mean Adult Score for Upper Extremity Function

Follow-Up Mean Adult Score for Upper Extremity Function

Baseline Mean Adult Score for Lower Extremity Function

Subjects above the age of 18 completed the pediatric version of this questionnaire and were included in analysis.

Adult Neurological Quality of Life (Neuro-QoL)

Spots Global Cancer Trial Database for Novel Cognitive Treatment Targets for Epidiolex in Sturge- Weber Syndrome

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