The Australasian Tuberous Sclerosis Society

Dr John Lawson Staff Specialist, Department of Neurology ,Sydney Children’s Hospital Randwick is conducting a clinical study of a new investigational treatment for individuals with Tuberous Sclerosis Complex related Subependymal Giant Cell Astrocytomas (SEGAs). He is currently seeking referrals of appropriate participants for enrolment into this study.

Click on 'Read More' for more information. The study, sponsored by Novartis Pharmaceuticals Corporation, is called EXIST-1 (Examining everolimus in a Study of TSC). EXIST-1 Is a phase III, randomized, double-blind, placebo-controlled study of everolimus patients with subependymal giant cell astrocytomas (SEGA) associated with Tuberous Sclerosis Complex (TSC).

Everolimus is a novel oral agent that acts as a multisignal inhibitor by blocking mammalian target of rapamycin (mTOR), an intracellular protein that is a central regulator of protein synthesis essential for cell growth, proliferation, and angiogenesis.1 Participants enrolling in this tuberous sclerosis research study will be asked to visit the study centre every 2 weeks during the first 2 months, then every 4 to 12 weeks until the end of the trial.

Patients may be eligible to enrol in the EXIST-1 clinical trial if they:

• Have been diagnosed with tuberous sclerosis complex (using the Modified Gomez Criteria)
• Have at least one SEGA lesion of > 1cm in longest diameter
• Have evidence of SEGA lesion progression or worsening hydrocephalus
• Do not suffer from uncontrolled diabetes or high cholesterol
• Do not suffer from severe kidney, liver, or lung problems
• Are not currently pregnant or breastfeeding

Informed consent will be obtained from anyone choosing to participate in the study.

Please contact Dr Lawson’s secretary on 02 9382 1658 for further information. It may also be appropriate for interested TSC affected individuals to discuss this study with their own medical doctor.