Sturge- Weber Syndrome Clinical Trial
— RSWOfficial title:
Phase II, Randomized, Triple Blind, Intra-individually Placebo-controlled Clinical Trial to Assess the Efficacy and Safety of Topical Rapamycin Associated With Pulsed Dye Laser in Patients With Sturge-Weber Syndrome.
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.
| Status | Completed |
| Enrollment | 23 |
| Est. completion date | December 2012 |
| Est. primary completion date | September 2012 |
| Accepts healthy volunteers | No |
| Gender | Both |
| Age group | 16 Years to 65 Years |
| Eligibility |
Inclusion Criteria: - Diagnosis: All patients must have the diagnostic criteria for Sturge-Weber syndrome. - Age: patients must be greater than 16 years and less than or equal to 21 years of age at the time of study entry. - Capillary malformation: patients must have CM on the face. - Investigational drug: Patients must not have received an investigational drug within 3 months. - Females of reproductive potential may not participate unless they have agreed to use an effective contraceptive method during the time they are receiving the study drug and for 3 months thereafter. Abstinence is an acceptable method of birth control. Women of childbearing potential will be given a pregnancy test prior to administration of rapamycin and must have a negative pregnancy test. - Intellectual capacity to understand the information given and able to comply with the protocol and safety monitoring requirements of the study in the opinion of the investigator. - Signed informed consent/assent. Exclusion Criteria: - Patients with diagnosis of Sturge-Weber syndrome without facial CM. - Patients with another cutaneous disease on the CM area. - Patients that will be applying another topical cream on the CM area. - Chronic treatment with systemic steroids or another immunosuppressive agent. Patients with endocrine deficiencies are allowed to receive physiologic or stress doses of steroids if necessary. - Patients who: - have had a major surgery or significant traumatic injury within 2 weeks of start of study drug; - have not recovered from the side effects of any major surgery (defined as requiring general anesthesia but excluding a procedure for insertion of central venous access), or - may require major surgery during the course of the study. - Other malignancies within the past 3 years except for adequately treated carcinoma of the cervix or basal or squamous cell carcinomas of the skin. - Patients who have any severe and/or uncontrolled medical conditions or other conditions that could affect their participation in the study such as: - symptomatic congestive heart failure of New York heart Association Class III or IV. - unstable angina pectoris, symptomatic congestive heart failure, myocardial infarction within 6 months of start of study drug, serious uncontrolled cardiac arrhythmia or any other clinically significant cardiac disease. - severely impaired lung function. - uncontrolled diabetes as defined by fasting serum glucose greater than 1.5 upper limit of normal. - active (acute or chronic) or uncontrolled severe infections. - liver disease such as cirrhosis, chronic active hepatitis or chronic persistent hepatitis. - Other concurrent severe and/or uncontrolled medical disease which could compromise participation in the study (i.e., uncontrolled diabetes, uncontrolled hypertension, severe infection, severe malnutrition, chronic liver or renal disease, active upper GI tract ulceration). - A known history of HIV seropositivity or known immunodeficiency. - Women who are pregnant or breast feeding. - Patients who have received prior treatment with an inhibitor of mammalian target of rapamycin. - History of noncompliance to medical regimens. - Patients unwilling to or unable to comply with the protocol or who, in the opinion of the investigator, may not be able to comply with the safety monitoring requirements of the study. |
Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Double Blind (Subject, Caregiver, Investigator, Outcomes Assessor)
| Country | Name | City | State |
|---|---|---|---|
| Spain | Clinica Universidad de Navarra | Pamplona | Navarra |
| Lead Sponsor | Collaborator |
|---|---|
| Clinica Universidad de Navarra, Universidad de Navarra |
Spain,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | Change from baseline in morphologic, chromatographic and spectrometric scores at week 6 | Change Outcome Measure | Baseline, Week 6 | No |
| Primary | Change from baseline in morphologic, chromatographic and spectrometric scores at week 12 | Change Outcome Measure | Baseline, Week 12 | No |
| Primary | Change from baseline in morphologic, chromatographic and spectrometric scores at week 18 | Change Outcome Measure | Baseline, Week 18 | No |
| Primary | Histological response at 12 weeks. | Efficacy Outcome Measure | 12 weeks | No |
| Secondary | Adverse events at baseline | At the beginning of the intervention | Yes | |
| Secondary | Adverse events at 6 weeks | 6 weeks after the beginning of the intervention | Yes | |
| Secondary | Adverse events at 12 weeks | 12 weeks after the beginning of the intervention | Yes | |
| Secondary | Adverse events at 18 weeks | 18 weeks after the beginning of the intervention | Yes | |
| Secondary | Total blood cholesterol level (mg/dL) at baseline. | At the beginning of the intervention | Yes | |
| Secondary | Total blood cholesterol level (mg/dL) at 6 weeks. | 6 weeks after the beginning of the intervention | Yes | |
| Secondary | Blood concentration of triglycerides (mg/dL) at baseline. | At the beginning of the intervention | Yes | |
| Secondary | Blood concentration of triglycerides (mg/dL) at 6 weeks. | At 6 weeks after the beginning of the intervention | Yes | |
| Secondary | Blood concentration of hemoglobin (g/dL) at baseline. | At the beginning of the intervention | Yes | |
| Secondary | Blood concentration of hemoglobin (g/dL) at 6 weeks. | At 6 weeks after the beginning of the intervention | Yes | |
| Secondary | Blood count of leukocytes (number of cells/mL) at baseline. | At the beginning of the intervention. | Yes | |
| Secondary | Blood count of leukocytes (number of cells/mL) at 6 weeks. | At 6 weeks after the beginning of the intervention. | Yes | |
| Secondary | Blood platelet count (number of platelets/mL) at baseline. | At the beginning of the intervention. | Yes | |
| Secondary | Blood concentration of rapamycin (ng/ml) at baseline. | At the beginning of the intervention. | Yes | |
| Secondary | Blood concentration of rapamycin (ng/ml) at 6 weeks. | At 6 weeks after the beginning of the intervention. | Yes | |
| Secondary | Blood platelet count (number of platelets/mL) at 6 weeks. | At 6 weeks after the beginning of the intervention. | Yes |