Rapamycin lotion significantly reduced the disfiguring facial tumors affecting more than 90 percent of people with tuberous sclerosis complex (TSC), researchers from The University of Texas Health Science Center at Houston (UTHealth) report.

Findings of the multicenter, international study involving 179 people with tuberous sclerosis complex appear in the journal JAMA Dermatology.

“People with tuberous sclerosis complex want to look like everyone else,” says Mary Kay Koenig, MD, the study’s lead author, co-director of the Tuberous Sclerosis Center of Excellence and holder of the Endowed Chair of Mitochondrial Medicine at McGovern Medical School at UTHealth, in a news release. “And, they can with this treatment.”

Koenig’s team tested two compositions of facial cream containing rapamycin and a third with no rapamycin. Patients applied the cream at bedtime for six months.

“Eighty percent of patients getting the study drug experienced a significant improvement compared to 25 percent of those getting the mixture with no rapamycin,” she says.

“Angiofibromas on the face can be disfiguring, they can bleed and they can negatively impact quality of life for individuals with TSC,” adds Kari Luther Rosbeck, President and CEO of the Tuberous Sclerosis Alliance.

“Previous treatments, including laser surgery, have painful after effects. This pivotal study and publication are a huge step toward understanding the effectiveness of topical rapamycin as a treatment option. Further, it is funded by the TSC Research Program at the Department of Defense.  We are so proud of this research,” Rosbeck says.

Rapamycin is typically given to patients undergoing an organ transplant. When administered by mouth, rapamycin suppresses the immune system to make sure the organ is not rejected.

Rapamycin and tuberous sclerosis complex are linked by a protein called mTOR. When it malfunctions, tuberous sclerosis complex occurs. Rapamycin corrects this malfunction.

It was initially used successfully to treat brain tumors caused by tuberous sclerosis complex, so researchers decided to try it on TSC-related facial tumors. Building on a 2010 pilot study on the use of rapamycin to treat TSC-related facial tumors, this study confirmed that a cream containing rapamycin shrinks these tumors.

As the drug’s toxicity is a concern when taken by mouth, researchers were careful to check for problems tied to its use on the skin. “It looks like the medication stays on the surface of the skin. We didn’t see any appreciable levels in the bloodstreams of those participating in the study,” Koenig shares.

The Topical Rapamycin to Erase Angiofibromas in TSC – Multicenter Evaluation of Novel Therapy or TREATMENT trial involved 10 test sites including one in Australia.

Additional studies are needed to gauge the long-term impact of the drug, the optimal dosage and whether the facial cream should be a combined with an oral treatment.

Koenig’s coauthors include Adelaide Hebert, MD; Joshua Samuels, MD, MPH.; John Slopis, MD.; Cynthia S. Bell; Joan Roberson, RN; Patti Tate; and Hope Northrup, MD All are from McGovern Medical School at UTHealth with  the exception of Slopis, who is with The University of Texas MD Anderson Cancer Center.  Hebert is also on the faculty of the MD Anderson Cancer Center and Northrup on the faculty of The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences.

The study was supported in part by the United States Department of Defense grant DOD TSCRP CDMRP W81XWH-11-1-0240 and by the Tuberous Sclerosis Alliance of Australia.

PHOTO CAPTION: Working on a promising treatment for facial tumors tied to tuberous sclerosis complex, from the left, are Adelaide Hebert, M.D.; John Slopis, M.D.; Mary Kay Koenig, M.D.; Joshua Samuels, M.D., M.P.H.; and Hope Northrup, M.D. All are from McGovern Medical School at UTHealth in Houston with the exception of Slopis, who is with The University of Texas MD Anderson Cancer Center

PHOTO CREDIT Maricruz Kwon, UTHealth