Topical Rapamycin to Erase Angiofibromas in TSC (Treatment)
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ClinicalTrials.gov Identifier: NCT01526356 |
Recruitment Status :
Completed
First Posted : February 3, 2012
Results First Posted : October 26, 2020
Last Update Posted : October 26, 2020
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The study is a multi-center prospective, randomized, double-blind, placebo-controlled evaluation of the safety and efficacy of a topically applied formulation of rapamycin to cutaneous angiofibromas in subjects with Tuberous Sclerosis Complex (TSC). Subjects will apply either the topical vehicle containing rapamycin or the topical vehicle alone nightly to their angiofibromas for six months.
The primary goal of this study is to evaluate the efficacy of the topical medication for reduction of cutaneous angiofibromas in patients with TSC. The secondary goal of this study is to confirm the safety of the topical medication.
Condition or disease | Intervention/treatment | Phase |
---|---|---|
Angiofibromas Tuberous Sclerosis | Drug: Placebo Drug: Rapamycin | Phase 2 |
Study Type : | Interventional (Clinical Trial) |
Actual Enrollment : | 179 participants |
Allocation: | Randomized |
Intervention Model: | Parallel Assignment |
Masking: | Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor) |
Primary Purpose: | Treatment |
Official Title: | Phase II Study of Topical Rapamycin to Erase Angiofibromas in TSC-Multicenter Evaluation of a Novel Therapy |
Study Start Date : | May 2012 |
Actual Primary Completion Date : | August 2014 |
Actual Study Completion Date : | August 2014 |

Arm | Intervention/treatment |
---|---|
Placebo Comparator: Placebo
Cream only
|
Drug: Placebo
Study cream is applied nightly to the affected areas on the face.
Other Name: Rapamycin |
Active Comparator: 0.1 % Rapamycin
0.1% Rapamycin cream
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Drug: Rapamycin
Study cream is applied nightly to the affected areas on the face. Low Dose |
Active Comparator: 1% Rapamycin
1% Rapamycin cream
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Drug: Rapamycin
Study cream is applied nightly to the affected areas on the face. High Dose |
- Change From Baseline in the Facial Angiofibroma Grading Scale (AGS) Score [ Time Frame: baseline, 6 months ]Subject's lesion/s will be digitally photographed before initial application (visit 1), at each study visit (visits 2 through 6), and immediately prior to study termination (visit 7). Following completion of the study, all photographs will be evaluated by two independent dermatologists blinded to both the treatment arm and the stage of treatment. The dermatologists will assess each photograph's appearance using the facial Angiofibroma Grading Scale (AGS), which assesses the forehead, nose, cheeks, and chin for erythema, average lesion size, lesion density, and percent involvement, as well as presence of any pedunculated angiofibromas. A total score is reported with a range of 0 to 202, with higher scores representing a worse outcome.
- Photo Readers' Rating (Better, Same, or Worse) of Paired Baseline and End-of-trial (EOT) Photographs for Each Patient [ Time Frame: baseline, 6 months ]
- Change in Quality of Life (QOL) Questionnaire Scores as Assessed by the Dermatology Life Quality Index (DLQI) [ Time Frame: baseline, 6 months ]The Dermatology life Quality Index (DLQI) is a ten-question questionnaire used to measure the impact of skin disease on the quality of life of an affected person. It is designed for people aged 16 years and above. Each question is scored from 0 to 3, giving a possible total score range from 0 (meaning no impact of skin disease on quality of life) to 30 (meaning maximum impact on quality of life).
- Change in Quality of Life (QOL) Questionnaire Scores as Assessed by the Children's Dermatology Life Quality Index (CDLQI) [ Time Frame: baseline, 6 months ]The Children's Dermatology life Quality Index (DLQI) is validated from the age of four years to 16 years. It is a ten-question questionnaire used to measure the impact of skin disease on the quality of life of an affected person. Each question is scored from 0 to 3, giving a possible total score range from 0 (meaning no impact of skin disease on quality of life) to 30 (meaning maximum impact on quality of life).
- Change in Quality of Life (QOL) Questionnaire Scores as Assessed by the Family Dermatology Life Quality Index (FDLQI) [ Time Frame: baseline, 6 months ]The Family Dermatology life Quality Index (FLQI) is designed for adult (more than 16 years of age) family members or partners of patients (of any age) with any skin disease. It is a ten-question questionnaire used to measure the impact of skin disease on the quality of life of an affected person. Each question is scored from 0 to 3, giving a possible total score range from 0 (meaning no impact of skin disease on quality of life) to 30 (meaning maximum impact on quality of life).
- Number of Events of Dermatologic Sensitivity at the Site of Application [ Time Frame: 6 months ]Dermatologic sensitivity includes pain, pruritis, or erythema at the application site.
- Number of Participants With Systemic Uptake of Topically Applied Rapamycin [ Time Frame: 6 months ]Blood levels checked to confirm the lack of systemic rapamycin.

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study: | Child, Adult, Older Adult |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Inclusion Criteria:
- Subjects must be willing and able to comply with all trial requirements.
- Subject has a diagnosis of TSC and has visible facial angiofibromas.
- Female subjects of child bearing potential must not be pregnant and must agree to use appropriate contraceptive methods .
Exclusion Criteria:
- Subject is currently receiving therapy with Rapamycin.
- Subject is receiving any form of immunosuppression or has previously experienced immune dysfunction.
- Subject is currently participating in or has participated within the last 30 days in a clinical trial involving an investigational drug.
- Subject has a known hypersensitivity to either the vehicle or Rapamycin.
- Subject is a pregnant or nursing female.
- Subject has other dermatologic conditions that would preclude or prevent adequate assessment of changes to their facial angiofibromas.
- Subject has had laser surgery, cryotherapy, or other dermatologic treatment to their facial angiofibromas within the previous 6 months.

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01526356
United States, Alabama | |
University of Alabama at Birmingham | |
Birmingham, Alabama, United States, 35294 | |
United States, California | |
UCLA Mattel Children's Hospital | |
Los Angeles, California, United States, 90095 | |
Jack & Julia Center for TSC at Oakland Children's Hospital & Research Center | |
Oakland, California, United States, 94609 | |
United States, Maryland | |
Kennedy Krieger Institute | |
Baltimore, Maryland, United States, 21205 | |
United States, Massachusetts | |
Herscot Center for Adults and Children with TSC Massachusetts General Hospital | |
Boston, Massachusetts, United States, 02114 | |
United States, Minnesota | |
Clinic Without Walls | |
Saint Paul, Minnesota, United States, 55102-2697 | |
United States, Ohio | |
Cincinnati Children's Hospital Medical Center | |
Cincinnati, Ohio, United States, 45229 | |
United States, Texas | |
Texas Scottish Rite Hospital | |
Dallas, Texas, United States, 75219 | |
The University of Texas Medical School at Houston | |
Houston, Texas, United States, 77030 | |
Australia, New South Wales | |
Sydney Children's Hospital | |
Sydney, New South Wales, Australia |
Principal Investigator: | Mary Kay Koenig, MD | The University of Texas Medical School at Houston | |
Principal Investigator: | Hope Northrup, MD | The University of Texas Medical School at Houston |
Responsible Party: | Mary Kay Koenig, Associate Professor, The University of Texas Health Science Center, Houston |
ClinicalTrials.gov Identifier: | NCT01526356 |
Other Study ID Numbers: |
HSC-MS-11-0501 Department of Defense USAMRMC ( Other Grant/Funding Number: W81XWH-11-1-0240 ) |
First Posted: | February 3, 2012 Key Record Dates |
Results First Posted: | October 26, 2020 |
Last Update Posted: | October 26, 2020 |
Last Verified: | September 2020 |
Angiofibroma Tuberous Sclerosis Rapamycin Sirolimus mTOR |
Tuberous Sclerosis Angiofibroma Sclerosis Pathologic Processes Hamartoma Neoplasms Neoplasms, Multiple Primary Neoplastic Syndromes, Hereditary Malformations of Cortical Development, Group I Malformations of Cortical Development Nervous System Malformations Nervous System Diseases Neurocutaneous Syndromes Heredodegenerative Disorders, Nervous System |
Neurodegenerative Diseases Congenital Abnormalities Genetic Diseases, Inborn Neoplasms, Vascular Tissue Neoplasms by Histologic Type Sirolimus Anti-Bacterial Agents Anti-Infective Agents Antibiotics, Antineoplastic Antineoplastic Agents Antifungal Agents Immunosuppressive Agents Immunologic Factors Physiological Effects of Drugs |