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TSC Matters

Clinical Trial for Individuals Diagnosed with Tuberous Sclerosis Complex (TSC) and Cutaneous Angiofibromas

We are currently conducting a clinical trial for individuals diagnosed with TSC with facial bumps called cutaneous angiofibromas. The goal of this study is to investigate if the study drug, sirolimus, improves cutaneous angiofibromas in individuals diagnosed with TSC. The trial is sponsored by a pharmaceutical company named Aucta Pharmaceuticals, Inc, and it will involve 6 to 8 centers including Boston Children’s Hospital, Children’s Hospital of Philadelphia, Le Bonheur Children’s Hospital, Children’s Hospital Colorado, Children’s Hospital Los Angeles, and Translational Genomic Research Institute.

We are looking to recruit individuals between the ages of 2 and 18 years who have TSC with cutaneous angiofibromas. If you/your child qualifies for the treatment phase of the trial after the initial screening visit, you/your child will be asked to take either the study ointment or a placebo (ointment with no medicine), which is determined by chance.

The study involves 4 visits to the hospital over a 4-month (16-week) timeframe. After completing the first phase of the study, you/your child will be offered the opportunity to participate in an optional 12-week open-label phase with sirolimus ointment. If you/your child agrees to participate in the open-label phase, you/your child will make 2 additional clinic visits bringing the total clinic visits to 6.

The study visits will involve blood draws, skin exams, vital signs, laboratory tests and other evaluations such as questionnaires and assessments. The study drug will be provided at no charge, and some compensation for travel expenses may be provided.

The following study sites are currently recruiting study participants. If you are interested in participating in this trial, please contact the following study coordinator and they will assist you with any questions you may have:

Boston Children’s Hospital:
Julia Costantini
(617) 355-1494
Julia.Costantini@childrens.harvard.edu

Children’s Hospital of Philadelphia:
Donnette Paris
(267) 426-7167
PARIS@email.chop.edu

Le Bonheur Children’s Hospital:
Tracee Ridley-Pryor
(901) 287-5338
tracee.ridley-pryor@lebonheur.org

Children’s Hospital Colorado
Shar Goodman
(702) 777-5379
Sharolene.goodman@childrenscolorado.org

Children’s Hospital Los Angeles
Martha Arellano-Garcia
(323) 361-5812
margarcia@chla.usc.edu

Translational Genomic Research Institute
Keri Ramsey
(602) 343-8620
kramsey@tgen.org