Research - Special Interest Group (SIG)

John Lawson, FRACP PhD

Tuberous Sclerosis Complex clinical trials

John did a PhD between 1998-2002 on neuroimaging in epilepsy supervised by Mark Cook and Annie Bye. He then went to Miami Children’s Hospital for 2 years working in the Epilepsy Surgery Programme. During this time, he also tested and used a Quality of Life instrument developed with Annie Bye for use in pre and post-surgery assessments. This questionnaire is now used worldwide. John is a fulltime paediatric neurologist with a special interest in Epilepsy and Tuberous Sclerosis Complex (TSC).

Interview by Russell Dale, 6 February 2014

v

What is your main research interest at the moment?

I have become increasingly interested in clinical research into TSC. Dr David Mowat alerted me to the potential use of mTOR inhibitors in 2005. We have set up a clinic with 140 children with TSC and we see about 80-90 of these kids every year. We also have Sean Kennedy who deals with the renal aspects and dermatology and developmental paediatric input. We have been fortunate to have an excellent collaboration with the Cincinnati group and had our first international TSC meeting in 2008. My main interest at the moment is clinical trials both for the tumours (SEGA) and epilepsy but also we are involved in therapeutic trials for the skin disease of TSC. We have set up a TS registry which has helped with data collection. What has been most pleasing is that these clinical trials led by Cincinnati have resulted in us now getting PBS approval for using these drugs in TSC.

v

What has made this clinical research initiative work?

It was important to establish links with international collaborators, but also local collaborators. It has been important to have logistical support, infrastructure support and it is impossible without a clinical trials nurse or scientific officer to help with the administrative burden.

v

What do you think are the barriers to multicentre collaboration?

The barriers are mostly historical- I think and for some reason we have not been able to achieve it in Australia. It is probably partly because everyone is so busy and it will also only work if there is a genuine interest in these specific areas in all of the nominated sites.

v

Supra-specialisation is maybe the way things are going, TSC clinics for example. Is this the way to go? Is this all good?

I think for ultra-rare disease, yes, this is the way to go to provide patients with the best care. The Italians have shown they are excellent at this and also masters of pooling their experience in rare disease.

v

What do you think is the biggest priority in TSC research for the next 5 years?

I think treating cognitive problems is the emerging priority. The drug companies are under increasing pressure to support clinical trials in children and we will see more of these paediatric clinical trials over the next 5-10 years.

v

Thanks for your time John.