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 3 centers including Boston Children’s Hospital, Le Bonheur Children’s Hospital in Memphis, Tennessee and Children’s Hospital of Philadelphia.

We are looking to recruit individuals between the ages of 2 and 18 years who have TSC with cutaneous angiofibromas. If your child qualifies for the treatment phase of the trial after the initial screening visit, then 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 6 visits to the hospital over a 4-month (16-week) timeframe. After completing the first phase of the study, your child will be offered the opportunity to participate in an optional 12-week open-label phase with sirolimus ointment. If you/your child agree to participate in the open-label phase, your child will make 3 additional clinic visits bringing the total clinic visits to 9. 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 a voucher for parking will be provided to you at each study visit.

 Boston Children’s Hospital is currently recruiting study participants, and Le Bonheur Children’s Hospital and Children’s Hospital of Philadelphia will start later. If you are interested in participating in this trial, please contact Julia Costantini at 617-355-5230 or Julia.Costantini@childrens.harvard.edu and she will assist you with any questions you may have.

Preventing Epilpesy Using Vigabatrin in Infants with Tuberous Sclerosis Complex (PREVeNT Trial) - click the link for more information