Facial Angiofibroma Clinical Trial
Official title:
Study of Combination Therapy With Topical Rapamycin and Calcitriol for Cutaneous Lesions of Tuberous Sclerosis: A Double-blind Randomized Controlled Trial
The aim of the study is to determine the effect and safety of topical rapamycin or
calcitriol and their combination for the treatment of TSC-associated facial angiofibroma.
Methods: A total of 52 TSC patients including 20 male and 32 female subjects were recruited,
and 50 of them completed the period 1 study. In period 1, topical rapamycin (0.1%) or
calcitriol (3 mcg/g) single-agent therapy versus their combination were applied twice a day
by a left-right randomized, split-face comparison for 12 weeks. The primary end point was
the reduction of facial angiofibroma severity index (FASI) for the grade of erythema, papule
size, elevation and extension of the lesions at week 12. In period 2, the patients entered
an open-label study and were reassigned to use the more effective ointment on both cheeks
for another 12 weeks (week 13-24). A follow-up FASI analysis for recurrence after drug
discontinuance for 12 weeks was also performed (week 36). The secondary end point was the
reduction of Visual Analysis Score (VAS) evaluated by the subjects themselves at week 12.
Background: Tuberous sclerosis complex (TSC)-associated facial angiofibroma is
psychologically debilitating to both patients and their family members. The pathogenesis of
TSC stems from TSC1 or TSC2 mutations, leading to the defect in mechanistic target of
rapamycin (mTOR) inhibition. Rapamycin is an mTOR inhibitor and is effective for TSC facial
angiofibroma through topical administration. Calcitriol, a vitamin D3 analogue, has been
shown to lessen skin fibrosis in scleroderma and may be therapeutically beneficial to
angiofibromas.
Objectives: The aim of the study is to determine the effect and safety of topical rapamycin
or calcitriol and their combination for the treatment of TSC-associated facial angiofibroma.
Methods: A total of 52 TSC patients including 20 male and 32 female subjects were recruited,
and 50 of them completed the period 1 study. In period 1, topical rapamycin (0.1%) or
calcitriol (3 mcg/g) single-agent therapy versus their combination were applied twice a day
by a left-right randomized, split-face comparison for 12 weeks. The primary end point was
the reduction of facial angiofibroma severity index (FASI) for the grade of erythema, papule
size, elevation and extension of the lesions at week 12. In period 2, the patients entered
an open-label study and were reassigned to use the more effective ointment on both cheeks
for another 12 weeks (week 13-24). A follow-up FASI analysis for recurrence after drug
discontinuance for 12 weeks was also performed (week 36). The secondary end point was the
reduction of Visual Analysis Score (VAS) evaluated by the subjects themselves at week 12.
;
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Completed |
NCT01853423 -
Tuberous Sclerosis Complex: Facial Angiofibroma Skin Cream
|
Phase 1 | |
| Completed |
NCT03826628 -
Dose-Ranging Efficacy and Safety Study of Topical Rapamycin Cream for Facial Angiofibroma Associated With Tuberous Sclerosis Complex
|
Phase 2/Phase 3 | |
| Terminated |
NCT02654340 -
Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)
|