Sturge Weber Syndrome Clinical Trial
Official title:
Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical Timolol
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.
;
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Completed |
NCT00639730 -
Use of the Atkins Diet for Children With Sturge Weber Syndrome
|
Phase 1 | |
| Withdrawn |
NCT01997255 -
Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome (SWS)
|
Phase 2 |