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Klippel-Trenaunay-Weber Syndrome

Sturge-Weber Syndrome

Infarction

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Neurocutaneous Syndromes

Klippel-Trenaunay Syndrome

Parkes Weber Syndrome

Weber Syndrome

Anne M Comi, M.D.

This study has three aims that hope to expand the knowledge on the cause of Sturge-Weber Syndrome (SWS) and improve clinical care of Sturge-Weber Syndrome patients.

This study is one of three projects of an NIH Rare Disease Clinical Research Consortium focused on brain blood vessel malformations in three different rare diseases. The focus of this project is on Sturge-Weber Syndrome.

We plan to improve the future understanding and treatment of Sturge-Weber Syndrome by 1) establishing a national consortium database which will gather lager amounts of clinical data and serve indirectly as a registry to foster future clinical trials and determine the usefulness of urine vascular biomarkers to determine the vascular remodeling of the SWS birthmark and choroidal angioma, 2) study vascular remodeling with retrospective and prospective neuroimaging to determine the vascular remodeling of the deep draining intraparenchymal vessels as it relates to SWS neurologic status, and 3) relate the GNAQ mutation to altered phosphorylation of pathway proteins and angiogenesis factors in SWS tissue.

Aim 1 retains data and samples without DNA. Aim 2 retains data without DNA. Aim 3 retains anonymous data with DNA.

Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

The Brain Vascular Malformations Clinical Research Network: Predictors of Clinical Course, Project 2: Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

Descriptive statistics for the national database, correlation between neurologic score and urine angiogenesis factor, and correlation between PWS (port-wine stain) attributes, urine vascular factors, and neuroscore

Correlation between neuroscore and degree of collateral venous vessel opening

Correlation between GNAQ mutation status and hyperphosphorylation in downstream proteins

National Institutes of Health (NIH)

University of California, San Francisco

National Institute of Neurological Disorders and Stroke (NINDS)

Duke University

Children's Hospital of Michigan

Baylor College of Medicine

Wills Eye

Nationwide Children's Hospital

New York University

Children's Hospital Medical Center, Cincinnati

Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

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

Epilepsy

This is open-label - all patients are placed on the diet. There is no control or placebo arm.

modified Atkins diet

Eric H Kossoff, MD

This research is being done to find out if the Atkins Diet can be used safely and effectively to reduce seizures in children who have Sturge Weber syndrome.

The ketogenic diet is a proven therapy for epilepsy, but can be difficult to use in children. The Atkins Diet is a high fat, high protein, low carbohydrate diet introduced in the 1970s to help with weight loss. It is different from the ketogenic diet in four major ways: no calorie restriction, no fluid restriction, no protein restriction, and is easy to start outside the hospital. People on the Atkins Diet become ketotic (produce high levels of ketones, a certain substance in the body), like patients on the ketogenic diet, and the investigators believe this may lead to seizure control.

Children aged 2-18 with Sturge Weber syndrome and seizures at least monthly, who have used at least two anti-seizure drugs may join. 5 children in total will be enrolled.

If you agree to be in this study, we will ask you to do the following things:

Before the diet is started:

* We will ask you to keep track of your child's seizures daily for 2 weeks before starting the Atkins diet and provide us with a 3-day food record as well.
* Baseline blood (about 2 teaspoons) and urine work will be obtained.
* We will give you a free copy of a carbohydrate-counting guide.
* You will be asked to fill out a 3-day food record.

On the diet:

* Give your child a daily calcium supplement and multivitamin.
* Keep a daily seizure log.
* Check urine for ketones (to make sure the diet is working) and specific gravity (to make sure your child is well hydrated) twice a week and when you come to clinic.
* We will ask you to weigh your child at home every week, and we will weigh him or her when you come into clinic too.
* Do not fluid restrict your child; please give plenty of carbohydrate-free fluids.
* You will give 20 grams per day of carbohydrates. We will give you instructions on how to measure daily intake of carbohydrates.
* We will not change medications for the first three months. Do not change your child's seizure medicines without checking with our doctors.
* For the first three months, we ask you to avoid store-bought low-carbohydrate products (as they can have more carbohydrates than advertised).

After being on the diet for one month, Dr. Kossoff will contact you by telephone to discuss how your child is doing. You can also speak with one of our dietitians. We will discuss the 3-day food record with you

You will be asked to come to the clinic (outpatient center, 5th floor) for two follow-up visits:

1. after being on the diet for 3 months and
2. after being on the diet for 6 months.

During these visits you will meet with one of our doctors and a dietitian. We will review your child's seizure control and health. We may obtain blood (about 2 teaspoons). We will check your child's urine for ketones and specific gravity.

If the diet is helping beyond 6 months, we will help your child continue on the diet with clinic visits and labs as necessary, at a carbohydrate amount that is most helpful.

Use of the Atkins Diet for Children With Sturge Weber Syndrome

Seizure frequency will be compared to baseline (pre-Diet).

Vascular Birthmarks Foundation

Johns Hopkins University

Eric Kossoff MD

Pharmaceutical Solutions

All Drugs and Chemicals

Anti-Arrhythmia Agents

Antihypertensive Agents

Timolol

Lubricant Eye Drops

Maleic acid

Ophthalmic Solutions

Adrenergic beta-Antagonists

Adrenergic Agents

Adrenergic Antagonists

Neurotransmitter Agents

Participants in this group will receive topical timolol

Participants in this group will receive Preservative free artificial tear gel.

0.5% timolol maleate ophthalmic gel-forming solution applied once

Preservative free artificial tear gel applied topically twice a day.

Preservative free artificial tear gel.

Alex V Levin, MD, MHSc

Primary Objective:

• To assess the possible utility of topical timolol in the management of port-wine mark (PWM) in Sturge-Weber syndrome in children.

Port-wine mark (PWM) represents a congenital capillary malformation,characterized by dilation and malformation of dermal capillaries that lack endothelial proliferation. It is frequently seen in the facial distribution of the trigeminal nerve. PWM persists throughout life and involves \~0.3% of the population. Although PWMs are found in other circumstances, \~ 3% of patients with facial PWM are also afflicted with Sturge-Weber syndrome. PWMs are cosmetic entities that often have serious social consequences, producing psychological trauma to both children and their parents. PWM does not involute with time, and, if left untreated, can develop deep purple coloration, tissue hypertrophy, and nodularity.

Laser therapy, which selectively destroys specific targets within the skin, is currently the most commonly used approach for treating PWM, although complete blanching of the PWM after laser is rarely achieved for most patients, and only 10-45% of patients with Sturge-Weber have shown satisfactory outcomes. Complications of pulsed dye laser treatment for PWM include pyogenic granuloma, scabbing, cutaneous scarring, and permanent hypo/hyperpigmentation. Laser treatment is relatively contraindicated in children with darker skin coloration due to the resulting hypopigmentation which may be equally unsightly. Laser treatment causes substantial discomfort and pain to patients, and often requires general anesthesia in children. This is particularly true since earlier treatment in infancy is desirable and yields increased successful resolution of the PWM. The hypertrophic PWM in later years is resistant to any treatment. Recently, propranolol was reported to successfully treat capillary hemangioma in infants.13 While the mechanism by which beta blockade improves hemangioma is unclear, ß2-mediated vasoconstrictive effects and the ensuing apoptosis of capillary endothelial cells may contribute to the positive therapeutic results.

Oral application of propranolol can cause severe systemic complications, including bronchospasm, vasospasm, hypoglycemia, hypotension, severe bradycardia, heart block, and congestive heart failure. Topical timolol solution, a β-blocker, has shown a similar ability to reduce capillary hemangioma of eyelids with little or no systemic effects in a small pilot study. Similar to capillary hemangioma, which is a proliferative lesion characterized by increased endothelial cell turnover, PWM is a capillary malformation with abnormal endothelial cells and large surface area of dilated capillaries. Thus, both capillary hemangioma and PWM share the similar characteristic of abnormal capillary endothelial cells.

This pilot study is designed to explore the potential role of topical timolol in the management of PWM. As PWM is so frequently associated with Sturge-Weber syndrome, a disorder in which approximately 50% of patients will develop glaucoma, this study will be conducted in an ophthalmology setting.

This study will consist of two arms. One group will receive timolol and the second group a placebo preservative free artificial tear gel. The groups will be divided with a ratio of 1:1 and the Timolol group will be matched with the placebo group by PWM location, age and race.

Both medications are to be applied and rubbed in by fingertip to the treatment site twice a day for 6 months by subject's parents/guardian. (Treatment site: 1x1 cm at inferior edge of facial PWM)

Follow-up schedule: 1 week after treatment initiation and then every 2 months for a period of six months.

Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical Timolol

Changes of color and size of PWM at treatment site will determine efficacy of the topical timolol.

University of Medicine and Dentistry of New Jersey

Chief, Pediatric Ophthalmology and Ocular Genetics

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome	NCT01425944	Sturge-Weber Sy...		1 Month -	Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome	NCT01425944	Sturge-Weber Sy...		1 Month -	Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Use of the Atkins Diet for Children With Sturge Weber Syndrome	NCT00639730	Epilepsy Sturge Weber Sy...	modified Atkins...	2 Years - 18 Years	Johns Hopkins University
Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical Timolol	NCT01533376	Sturge Weber Sy... Port-wine Mark	Timolol Preservative fr...	2 Years - 10 Years	Wills Eye

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