Reach Out October 2018

Research
Research News
International topical rapamycin clinical trial
This research developed a topical cream to treat the small tumours
that grow on the face of people with tuberous sclerosis complex.
While these tumours, called angiofibromas, do not cause as
many medical issues as the tumours on internal organs, they
are a constant reminder of how a person with TSC is different to
everyone else.
Our dedicated team at Sydney Children’s Hospital, led by
Drs Orli Wargon and David Mowat, were the only international
site in this multi-centre trial and joined other TSC centres of
excellence around the USA to complete the study. The project
was funded by over $200,000 raised through hundreds of
donations and fundraising efforts of members of Tuberous
Sclerosis Australia (TSA).
This project is the largest randomised clinical trial into this
treatment for angiofibromas. The trial showed that 80 percent
of people using the cream experienced significant improvement.
The study also showed that the medicine is not absorbed into the
bloodstream, which means this cream brings few risks of side
effects. The cream offers a safe and cost-effective alternative to
painful repeated laser surgery that, until recently, was the only
option for these disfiguring growths.
The medicine is not yet fully funded in Australia. TSA will
use these study results in our continued work to improve access
and affordability of the cream. People with TSC can find out more
about how to access the cream on our online information page at
www.tsa.org.au/topicalfaq
A huge thank you to all of the families who participated in the
trial which included many study visits and blood tests.
We also acknowledge the dedication of everyone who
contributed to the fundraising campaign that made this
trial possible – particularly the efforts of the Fundraising
Friends committee including Debbie and Daimon Duffy, Matt
Cashmore, Mark Gold, Nicole Moog, Kathryn Kennedy, Hayley
Hill and Sue Pinkerton.
Koenig, M. K. et al. Efficacy and safety of topical rapamycin in
patients with facial angiofibromas secondary to tuberous sclerosis
complex: The treatment randomized clinical trial. JAMA dermatology
154, 773-780, doi:10.1001/jamadermatol.2018.0464 (2018).
Australian research into TSC and autism continues
Dr Bec Mitchell continues her valuable work on the DOTS* study
that is increasing our knowledge of the risk factors for autism in
children with TSC and of possible interventions for children at
risk of autism. Dr Mitchell is a developmental paediatrician at
Royal Children’s Hospital in Melbourne and is working with Dr
Simon Harvey and Dr Katrina Williams.
More than 30 children have
been through detailed developmental
assessments and reviews as part of
this project. We are grateful to the
families who have taken the time to
be a part of this.
Dr Mitchell has completed an analysis of existing work in
this area to understand what we can learn by combining results
of multiple small studies. For example, are children who have
seizures more likely to be later diagnosed with autism? Does a
higher number of tubers in a child’s brain increase the child’s risk
of autism? Do the genetic changes in TSC1 or TSC2 mean a child
is more likely to develop autism?
Understanding which children with TSC are at greatest
risk of autism may help these children access earlier
interventions such as parent coaching and speech and language
interventions. We may also learn more about whether there are
specific interventions for these children that can reduce their
developmental delays or their risk of autism.
More than 30 children have been through detailed developmental
assessments and reviews as part of this project. We are grateful to the
families who have taken the time to be a part of this. Thank you to the
Romios family for fundraising for this project in honour of their son
Kristian and also to the University of Melbourne for funding
Dr Mitchell’s PhD through the Leslie Eric Paddle scholarship.
We look forward to sharing more about Dr Mitchell’s work as
it is published.
Watch Dr Mitchell talk about this study and early
development in children with TSC at www.tsa.org.au/DOTS
*Development outcomes of children with tuberous sclerosis
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Reach
Out
OCTOBER 2018 ISSUE 108