Symptoms and General Pathology

All Conditions

Behaviors and Mental Disorders

Heart and Blood Diseases

Neoplasms

Nervous System Diseases

Diseases and Abnormalities at or Before Birth

Skin and Connective Tissue Diseases

Rare Diseases

Syndrome

Cognitive Dysfunction

Klippel-Trenaunay-Weber Syndrome

Sturge-Weber Syndrome

Infarction

Brain Stem Infarctions

Cognition Disorders

Neurocognitive Disorders

Mental Disorders

Psychotic Disorders

Brain Infarction

Ischemia

Brain Ischemia

Cerebrovascular Disorders

Brain Diseases

Central Nervous System Diseases

Stroke

Vascular Diseases

Necrosis

Angiomatosis

Hemangioma

Neoplasms, Vascular Tissue

Neoplasms by Histologic Type

Neurocutaneous Syndromes

Klippel-Trenaunay Syndrome

Parkes Weber Syndrome

Weber Syndrome

Pharmaceutical Solutions

All Drugs and Chemicals

Anti-Infective Agents

Antineoplastic Agents

Sirolimus

Temsirolimus

MTOR Inhibitors

Anti-Bacterial Agents

Antibiotics, Antitubercular

Clotrimazole

Miconazole

Antifungal Agents

Immunosuppressive Agents

Immunologic Factors

All subjects will receive the sirolimus oral solution to be taken at home twice daily and will be treated on an outpatient basis. The drug will be taken for six months.

Anne M Comi, M.D.

The purpose of this research study is to gain a preliminary understanding of the safety of sirolimus in Sturge-Weber syndrome (SWS) and determine best outcomes to be used to assess the utility of sirolimus for the treatment of cognitive impairments related to Sturge-Weber syndrome.

Sirolimus will be administered as an adjunct to all current medications. The impact of sirolimus upon cognitive functioning in Sturge-Weber syndrome is the primary outcome measure. This outcome will be assessed using a panel of testing selected based upon extensive experience in testing cognitive function in adults and children with SWS at the Kennedy Krieger Sturge-Weber Center. Changes in a quantitative EEG before and after the trial, Sturge-Weber syndrome clinical neuroscore, port-wine birthmark score, and the impact of sirolimus upon seizures will be assessed.

Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome

Change over six months in cognitive functioning in Sturge-Weber syndrome is the primary outcome measure. This outcome will be assessed using the NIH Toolbox Cognitive Battery, a panel of testing which includes the following measures:

* the Flanker Inhibitory Control and Attention Test (executive function and attention)
* the Dimensional Change Card Sort Test (executive function)
* Picture Sequence Memory Test (episodic memory)
* Oral Reasoning Recognition Test and Picture Vocabulary Test (language skills)
* Pattern Comparison Processing Speed Test (processing speed)
* List Sorting Working Memory Test (working memory)
* 9-hole Peg Test (dexterity)
* Grip Strength Test (grip strength) and
* Patient-Reported Outcomes Measurement Information System (PROMIS) (self-report emotional functioning).

These scores are rescaled to T scores (mean = 50, standard deviation (SD) = 10), referenced against the US population. Higher scores indicate better outcome. T scores only were analyzed.

Change in mean laterality score (by qEEG power analysis) was done comparing hemispheres and occipital lobes in the following frequency bands; delta, theta, alpha, beta, as previously described. As post-hoc analysis, baseline and follow-up qEEG of patients with and without stroke-like episodes were compared. Greater asymmetry with decreased power on the affected side is worse. We calculated a mean Laterality Score (LSb) for each band, averaged over 30 epochs and included channel pairs. Laterality Scores less than zero indicate lower power on the side ipsilateral to the port wine birthmark. In subjects who had a bilateral port wine birthmark, the side of maximal involvement was used (or the side of known involvement by MRI findings, where present).

Change in clinical neuroscore over the course of the study were measured. The neuroscore is comprised of frequency of seizures (0-4) , extent of hemiparesis (0-4), assessment of visual field cut (0-2) , and degree of cognitive functioning (0-5) with a minimum total score of 0 and a maximum total score of 15. Higher scores mean worsening of symptoms.

Frontal and profile photograph will be taken under standardized conditions with scoring of the port-wine birthmark for percent of face covered, thickness of birthmark, and darkness of birthmark color.

Children's Hospital Medical Center, Cincinnati

Pfizer

National Institutes of Health (NIH)

Faneca 66 Foundation

National Institute of Neurological Disorders and Stroke (NINDS)

Anne Comi, MD

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

The Rare Diseases Clinical Research Network defines an adverse event as "...an unfavorable and unintended sign, symptom or disease associated with a participants' participation in a Rare Disease Clinical Research Network Study." The three types of adverse events are serious adverse events, unexpected adverse events and expected adverse events. This classification is using Common Terminology Criteria for Adverse Events developed and maintained by CTEP at National Cancer Institute.

All subjects will receive the sirolimus oral solution to be taken at home twice daily and will be treated on an outpatient basis. The drug will be taken for six months.

Sirolimus: Low dose oral sirolimus

Age, Categorical

Age, Continuous

Sex: Female, Male

Ethnicity (NIH/OMB)

Race (NIH/OMB)

United States

Region of Enrollment

Research Assistant

National Institute of Health Toolbox Vocabulary Baseline

National Institute of Health Toolbox Vocabulary Follow-up

National Institute of Health Toolbox Attention Baseline

National Institute of Health Toolbox Attention Follow-up

National Institute of Health Toolbox Working Memory Baseline

National Institute of Health Toolbox Working Memory Follow-up

National Institute of Health Toolbox Executive Function Baseline

National Institute of Health Toolbox Executive Function Follow-up

National Institute of Health Processing Speed Baseline

National Institute of Health Processing Speed Follow-up

National Institute of Health Toolbox Sequential Memory Baseline

National Institute of Health Toolbox Sequential Memory Follow-up

National Institute of Health Toolbox Recognition Baseline

National Institute of Health Toolbox Recognition Follow-up

Patient-Reported Outcomes Measurement Information System (PROMIS) Anxiety Baseline

Patient-Reported Outcomes Measurement Information System (PROMIS) Anxiety Follow-up

Patient-Reported Outcomes Measurement Information System (PROMIS) Depression Baseline

Patient-Reported Outcomes Measurement Information System (PROMIS) Depression Follow-up

Patient-Reported Outcomes Measurement Information System (PROMIS) Fatigue Baseline

Patient-Reported Outcomes Measurement Information System (PROMIS) Fatigue Follow-up

Patient-Reported Outcomes Measurement Information System (PROMIS) Pain Interference

Patient-Reported Outcomes Measurement Information System Pain (PROMIS) Interference Follow-up

Patient-Reported Outcomes Measurement Information System (PROMIS) Physical Function Baseline

Patient-Reported Outcomes Measurement Information System (PROMIS) Physical Interference Follow-up

Patient-Reported Outcomes Measurement Information System (PROMIS) Peer Relations Baseline

Patient-Reported Outcomes Measurement Information System (PROMIS) Peer Relations Follow-up

Grip Strength Dominant Baseline

Grip Strength Dominant Follow-up

Grip Strength Non-Dominant Baseline

Grip Strength Non-Dominant Follow-up

Dexterity Dominant Baseline

Dexterity Dominant Follow-up

Dexterity Non-Dominant Baseline

Dexterity Non-Dominant Follow-up

Change in Cognitive Function as Assessed by the National Institute of Health (NIH) Toolbox Cognitive Battery

Spots Global Cancer Trial Database for Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome

Trial Identification

Conditions

Interventions

Study Description

Keywords

Eligibility

Locations

Contact Details

Useful links and downloads for this trial