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Topical Sirolimus Ointment for Cutaneous Angiofibromas in Subjects With Tuberous Sclerosis Complex

Phase 2
Terminated
Conditions
Tuberous Sclerosis
Angiofibroma of Face
Interventions
Registration Number
NCT03363763
Lead Sponsor
Aucta Pharmaceuticals, Inc
Brief Summary

The objective of this study is to evaluate the safety and efficacy of sirolimus (0.2% and 0.4% formulations) and its vehicle when applied topically once daily for 12 weeks for the treatment of cutaneous angiofibromas in pediatric subjects with tuberous sclerosis complex (TSC).

Detailed Description

This is a Phase 2, randomized, double-blind, placebo-controlled, multicenter study designed to assess the safety and efficacy of topically-applied sirolimus for the treatment of cutaneous angiofibromas in pediatric subjects with TSC. Approximately 45 subjects will be enrolled at investigational sites in the United States (US) and China, though other countries may be added in the future. Approximately 45 subjects who meet the study entry criteria will randomly be assigned in a 1:1:1 ratio to receive 1 of 3 treatments: sirolimus 0.2% ointment, sirolimus 0.4% ointment, or placebo ointment. The randomization is stratified by site. Subjects, or a parent/guardian, will apply the study medication topically to the cutaneous angiofibromas on the face once daily at night before going to bed for 12 weeks. Subjects who complete the double-blind phase of the study, with an overall compliance rate \>80% as determined by the dosing diary, will be offered entry into an open-label period for an additional 12 weeks.

The maximum study duration for each subject will be approximately 30 weeks and includes a screening period of up to 4 weeks, a blinded treatment period of 12 weeks, optional open-label period of 12 weeks, and a follow-up period of 2 weeks.

An interim analysis will be performed when all subjects have completed the double-blind phase (Visit 5 - Week 12). The data will be unblinded to assess for efficacy and results reported.

Recruitment & Eligibility

Status
TERMINATED
Sex
All
Target Recruitment
24
Inclusion Criteria
  1. Generally healthy males or non-pregnant females aged 2 to 21 years, inclusive, at the time of screening.

  2. Diagnosis of TSC with visible facial angiofibromas of at least grade 3 up to grade 5, inclusive, based on the IGA.

  3. Subjects with 3 or more isolated, measurable lesions of facial angiofibroma, with color grading score ≥2 for each of the 3 lesions.

  4. Females of childbearing potential must have a negative urine pregnancy test (or a negative serum pregnancy test if a urine pregnancy test cannot be obtained) (For China, different pregnancy test would be followed) and if sexually active or become sexually active during the study, must agree to use an effective form of birth control for the duration of the study. Females using oral contraceptives must also use a barrier method of contraception during the study. Sexually active male subjects and/or their female partners should also use appropriate contraception.

    Effective contraception is defined as follows:

    • Oral/implant/injectable/transdermal/estrogenic vaginal ring contraceptives, intrauterine device, condom with spermicide, diaphragm with spermicide.
    • Abstinence or partner's vasectomy are acceptable if the female agrees to implement one of the other acceptable methods of birth control if her partner changes.
  5. The subject and/or their parent or guardian must be willing and able to provide written informed consent/assent.

  6. Willing and able to comply with all trial requirements.

  7. Subject or parent/guardian must be able to complete the subject self-assessment survey and subject diary in English or another language into which the documents have been officially translated.

  8. Subjects should be in good general health based on the subject's medical history, physical exam, and impression of the study doctor.

Exclusion Criteria
  1. Has any chronic or acute medical condition, that in the opinion of the investigator, may pose a risk to the safety of the subject during the trial period, or may interfere with the assessment of safety or efficacy in this trial.
  2. Has received oral therapy or topical therapy of an mTOR inhibitor (sirolimus, temsirolimus, or everolimus) within 1 month of Baseline or other dermatological treatment to facial angiofibromas within 1 month of baseline. (Sunscreen is expected to be used in this patient population and is not considered treatment.)
  3. Is currently receiving any form of immunosuppression therapy or has previously experienced significant immune dysfunction.
  4. Has a history of sensitivity to any component of the investigational product.
  5. Is pregnant, plans to become pregnant during the course of the study, or is breastfeeding.
  6. Has other dermatologic conditions, pigmentation, scarring, pigmented lesions or sunburn in the treatment area that would preclude or prevent adequate assessment of changes to their facial angiofibromas.
  7. Has facial hair (e.g., beard, sideburns, mustache) that could interfere with study assessments.
  8. Has had laser surgery or cryotherapy to facial angiofibromas within 6 months preceding study entry.
  9. Requires the use of any concomitant medication that, in the investigator's opinion, has the potential to cause an adverse effect when given with the investigational product or will interfere with the interpretation of the study results (see Section 16.1 Appendix 1 for Potential Drug Interactions).
  10. Has participated in another clinical trial or received an investigational product within 3 months prior to screening.

Study & Design

Study Type
INTERVENTIONAL
Study Design
PARALLEL
Arm && Interventions
GroupInterventionDescription
Arm 2Sirolimus 0.4%Sirolimus 0.4% ointment applied topically hs x 12 weeks
Arm 1Sirolimus 0.2%Sirolimus 0.2% ointment applied topically hs x 12 weeks
Arm 3Placebo ointmentPlacebo ointment applied topically hs x 12 weeks
Primary Outcome Measures
NameTimeMethod
The proportion of subjects with a clinical response of treatment success.Week 12

At least a 2-grade improvement on the Week 12 Investigator Global Assessment (IGA) of the facial skin lesions assessed by the investigator.

Secondary Outcome Measures
NameTimeMethod
The time to reach at least 30% improvement from Baseline in the Facial Angiofibromas Severity Index (FASI) scoreWeek 12

Based on lesion erythema, size, and extension

The proportion of subjects with at least 2-grade improvement as compared to Baseline in lesion elevation scoreWeek 12

Based on elevation over normal skin

The proportion of subjects with at least 2-grade improvement as compared to Baseline in the subject self-assessment surveyWeek 12

Based on redness and disease-related lesions

The proportion of subjects with an investigator assessed IGA score of clear or almost clear with at least a 2-grade improvement on the Week 12 IGA of the facial skin lesionsWeek 12

Based on IGA score

Overall response of angiofibroma assessed by the investigator at Week 12 as compared to baseline based on Modified Nobel Scoring SystemWeek 12

Based on target and non-target lesions. Minimum value of -2 and maximum value of 4 with higher score indicating better outcome.

Overall response of angiofibroma assessed by the IRC at Week 12 compared to baseline based on Modified Nobel Scoring SystemWeek 12

Based on target and non-target lesions Minimum value of -2 and maximum value of 4 with higher score indicating better outcome.

The proportion of subjects with at least a 2-grade improvement on the Week 12 Investigator Global Assessment (IGA) of the facial skin lesions assessed by the IRCWeek 12

Based on IGA Score

The proportion of subjects with at least 2-grade improvement as compared to Baseline in categorical lesion countsWeek 12

Based on number of lesions

The proportion of subjects with at least 30% improvement at Week 12 as compared to Baseline in the Facial Angiofibromas Severity Index (FASI) score.Week 12

Based on lesion erythema, size, and extension

The proportion of subjects with at least Moderate Improvement on Modified Nobel Scoring System assessed by the investigator at Week 12Week 12

Based on target and non-target lesions

The proportion of subjects with at least Moderate Improvement on Modified Nobel Scoring System assessed by the IRC at Week 12Week 12

Based on target and non-target lesions

Trial Locations

Locations (8)

Children's Healthcare of Atlanta

🇺🇸

Atlanta, Georgia, United States

LeBonheur Children's Hospital

🇺🇸

Memphis, Tennessee, United States

Translational Genomics Research

🇺🇸

Phoenix, Arizona, United States

Children's Hospital of Los Angeles, Division of Neurology

🇺🇸

Los Angeles, California, United States

Children's Clinical Research Organization, Children's Hospital Colorado

🇺🇸

Aurora, Colorado, United States

Boston Children's Hospital

🇺🇸

Boston, Massachusetts, United States

Children's Hospital of Philadelphia

🇺🇸

Philadelphia, Pennsylvania, United States

Children's Hospital of Fudan University

🇨🇳

Shanghai, China

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