Efficacy and Safety Study of Topical Rapamycin Associated With Pulsed Dye Laser in Patients With Sturge-Weber Syndrome

NCT02080624 | Completed Phase 2

• 2 other identifiers: RSW20112010-024078-20
• Study Type: interventional
• Target: 23
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Sturge- Weber Syndrome

Outcome Measures

Primary Outcomes (4)

• Change from baseline in morphologic, chromatographic and spectrometric scores at week 6

  Change Outcome Measure

  Baseline, Week 6

• Change from baseline in morphologic, chromatographic and spectrometric scores at week 12

  Change Outcome Measure

  Baseline, Week 12

• Change from baseline in morphologic, chromatographic and spectrometric scores at week 18

  Change Outcome Measure

  Baseline, Week 18

• Histological response at 12 weeks.

  Efficacy Outcome Measure

  12 weeks

Secondary Outcomes (16)

• Adverse events at baseline

  At the beginning of the intervention

• Adverse events at 6 weeks

  6 weeks after the beginning of the intervention

• Adverse events at 12 weeks

  12 weeks after the beginning of the intervention

• Adverse events at 18 weeks

  18 weeks after the beginning of the intervention

• Total blood cholesterol level (mg/dL) at baseline.

  At the beginning of the intervention

Study Arms (1)

Rapamycin

EXPERIMENTAL

Topical rapamycin applied once a day

Drug: Drug: Topical Rapamycin

Interventions

Drug: Topical Rapamycin DRUG

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.

Also known as: topical rapamycin 1%

Rapamycin

Eligibility Criteria

• Age: 16 Years - 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Clinica Universidad de Navarra, Universidad de Navarra: lead

Study Sites (1)

Clinica Universidad de Navarra

Pamplona, Navarre, 31008, Spain

Location

MeSH Terms

Conditions

Brain Stem Infarctions

Interventions

Sirolimus

Condition Hierarchy (Ancestors)

Brain Infarction; Brain Ischemia; Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Stroke; Vascular Diseases; Cardiovascular Diseases; Infarction; Ischemia; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Necrosis

Intervention Hierarchy (Ancestors)

Macrolides; Lactones; Organic Chemicals

Study Officials

• Maider Pretel, MD PhD

  Clinica Universidad de Navarra

  PRINCIPAL INVESTIGATOR

• Leyre Aguado, MD PhD

  Clinica Universidad de Navarra

  PRINCIPAL INVESTIGATOR

• Laura Marqués, MD

  Clinica Universidad de Navarra

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: QUADRUPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 18, 2013
• First Posted: March 6, 2014
• Study Start: January 1, 2011
• Primary Completion: September 1, 2012
• Study Completion: December 1, 2012
• Last Updated: March 6, 2014

Record last verified: 2013-10

Locations

ES (1)