Sturge-Weber syndrome (SWS) is a rare congenital neuro-cutaneous disorder considered as a rare or orphan disease. SWS is characterized by a capillary vascular malformation (CM) localized on the skin of the face, eyes and central nervous system. Given the localization and the extent of the CM, children with SWS are particularly prone to developing severe psychological problems. The standard treatment for CM is pulsed dye laser (PDL) although in these cases whitening of the lesion is rarely achieved. Combining topical rapamycin, a specific inhibitor of the mammalian target of rapamycin, with PDL is hypothesised to be a good therapeutic option in these patients.
Patients with SWS will be treated with 2 sessions of PDL in the lateral part of the CM separated by an interval of 6 weeks and with 1% topical rapamycin or placebo in the superior or inferior half, both applied once a day for 12 weeks. The clinical response will be analyzed using a morphologic and chromatographic computerised system and with spectrometry. Histological response will be evaluated also. For that purpose, we will make 4 biopsies, one in each quadrant (quadrant treated with PDL and placebo, quadrant treated with PDL and rapamycin, quadrant treated only with rapamycin and quadrant treated only with placebo)
Study Type
INTERVENTIONAL
Allocation
NA
Masking
QUADRUPLE
Enrollment
23
After signing this consent form, you will be asked to undergo some screening tests or procedures to find out if you can be in the research study. A medical history, which involves questions about your health history, any medications you are taking or plan to take, any allergies and the treatments you received for your CM. A physical exam, during which you will be asked about any problems that you might be having. Additionally, your clinician will check your vital signs (blood pressure, heart rate, weight and height). The doctor will also evaluate your performance status, which indicates how much your illness affects your activity level. Blood tests, which will be done to make sure your hemogram, triglyceride and cholesterol levels are normal. A pregnancy test for females will be done to check that you are not pregnant. If theses tests show that you are eligible to participate in the research study, you will begin the study treatment.
Clinica Universidad de Navarra
Pamplona, Navarre, Spain
Change from baseline in morphologic, chromatographic and spectrometric scores at week 6
Change Outcome Measure
Time frame: Baseline, Week 6
Change from baseline in morphologic, chromatographic and spectrometric scores at week 12
Change Outcome Measure
Time frame: Baseline, Week 12
Change from baseline in morphologic, chromatographic and spectrometric scores at week 18
Change Outcome Measure
Time frame: Baseline, Week 18
Histological response at 12 weeks.
Efficacy Outcome Measure
Time frame: 12 weeks
Adverse events at baseline
Time frame: At the beginning of the intervention
Adverse events at 6 weeks
Time frame: 6 weeks after the beginning of the intervention
Adverse events at 12 weeks
Time frame: 12 weeks after the beginning of the intervention
Adverse events at 18 weeks
Time frame: 18 weeks after the beginning of the intervention
Total blood cholesterol level (mg/dL) at baseline.
Time frame: At the beginning of the intervention
Total blood cholesterol level (mg/dL) at 6 weeks.
Time frame: 6 weeks after the beginning of the intervention
Blood concentration of triglycerides (mg/dL) at baseline.
Time frame: At the beginning of the intervention
Blood concentration of triglycerides (mg/dL) at 6 weeks.
Time frame: At 6 weeks after the beginning of the intervention
Blood concentration of hemoglobin (g/dL) at baseline.
Time frame: At the beginning of the intervention
Blood concentration of hemoglobin (g/dL) at 6 weeks.
Time frame: At 6 weeks after the beginning of the intervention
Blood count of leukocytes (number of cells/mL) at baseline.
Time frame: At the beginning of the intervention.
Blood count of leukocytes (number of cells/mL) at 6 weeks.
Time frame: At 6 weeks after the beginning of the intervention.
Blood platelet count (number of platelets/mL) at baseline.
Time frame: At the beginning of the intervention.
Blood concentration of rapamycin (ng/ml) at baseline.
Time frame: At the beginning of the intervention.
Blood concentration of rapamycin (ng/ml) at 6 weeks.
Time frame: At 6 weeks after the beginning of the intervention.
Blood platelet count (number of platelets/mL) at 6 weeks.
Time frame: At 6 weeks after the beginning of the intervention.
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