TSC Research Round Up is a new enewsletter from TSA in which we present summary reports of some of the latest TSC-related research from Australia and around the world that we believe may be of relevance and importance to our TSC community.
Dr Kate Riney and the team at Queensland Children’s Hospital are currently recruiting patients for a formal phase II/III trial of topical rapamycin (sirolimus) for facial angiofibromas. Some funding for interstate travel is available, making this trial available for eligible … Read More
The aim of this study was to assess the efficacy and safety of treatment of an mTOR inhibitor in children under 2 years of age. Seventeen children who received early treatment with an mTOR inhibitor were included. The children had … Read More
While most paediatricians and child neurologists have become good at identifying and treating the physical manifestations of TSC, it remains difficult to identify and treat the neuropsychiatric issues commonly associated with TSC. Why the TAND checklist was developed In 2012, the … Read More
Up to 90% of patients with TSC have epilepsy and in over half of those, seizure control cannot be achieved by regular antiepileptic drugs. This is commonly known as uncontrolled, refractory, intractable, or drug-resistant epilepsy. Everolimus and sirolimus are both mTOR-inhibiting drugs … Read More
One of the largest international scientific research programs on epilepsy has reached its end. The EPISTOP project proved that preventive treatment decreased the risk and severity of epilepsy. The results of the EPISTOP research will be used to develop a … Read More
A recently published study from the global EPISTOP study suggests that we can use developmental assessments of babies as young as six months old to predict which will go on to be diagnosed with autism spectrum disorder (ASD).
This study helps us understand epilepsy in people with tuberous sclerosis complex (TSC) by analysing the experiences of 1852 people with both TSC and epilepsy involved in the TOSCA project.
We are pleased to share news that everolimus (Afinitor) for epilepsy has been added to Australia’s pharmaceutical benefits scheme (PBS). Today the Federal Health Minister, the Honourable Greg Hunt announced that this medicine to treat seizures for people with TSC … Read More
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 … Read More