Research Round Up October 2022
In this issue we have included two recent studies on developmental outcomes in infants that we think will be of interest to many of you.
Prenatal diagnosis and intervention in children with TSC
Purpose of this study This study aimed to assess whether prenatal diagnosis of TSC and early intervention are correlated with better developmental and epilepsy-related outcomes than postnatal diagnosis. About this study This was a retrospective, single-centre study of children with … Read More
Epilepsy and language development in 8–36 month-old children living with TSC
Context Previous studies have estimated the incidence of Autism Spectrum Disorder (ASD) to be 17%-61% in children with TSC, and the incidence of epilepsy to be 70%-90%. Several studies suggest 60%-80% of people with TSC experience their first seizure within … Read More
Be a Part of TSC Research: Biosample Repository and Natural History Database
An exciting opportunity for people with TSC in Australia to help researchers discover biomarkers of TSC, test potential drug treatments, and determine why TSC is so different from person to person.
Research Round Up July 2022
In this issue of Research Round Up we have included a summary on the long-term safety of everolimus and a study which evaluated safety and anti-epileptic efficacy of Rapamycin treatment in paediatric patients with drug-resistant TSC- associated epilepsy.
Antiepileptic effect and safety profile of Rapamycin in paediatric patients with TSC
About this study Treatment with mTOR pathway inhibitors is important in drug resistant epilepsy (DRE). This study sought to evaluate the safety and efficacy of 12 months of Rapamycin treatment in 32 paediatric patients aged from 11 months to 14 … Read More
Real-world evidence study on the long-term safety of everolimus in patients with TSC
About this study The TuberOus SClerosis registry to increase disease Awareness (TOSCA) Post-Authorization Safety Study (PASS) was a non-interventional, multicenter, safety study that assessed the long-term safety of everolimus in patients with TSC in the European Union. The secondary aims … Read More
Research Round Up April 2022
In this issue we include summaries of recent research papers on two of the therapies that may be used to treat TSC-related drug resistant epilepsy.
Vagus nerve stimulation (VNS) and drug-resistant epilepsy: a meta-analysis
Many children are affected by drug-resistant epilepsy (DRE). Drug-resistant epilepsy can cause increased mortality, cognitive impairment/developmental delays and poorer quality of life. It is therefore important to control seizures to reduce developmental delays in paediatric epilepsy. Seizure control may be … Read More
Expert advice for prescribing cannabis medicines for patients with epilepsy
Approximately 75% – 90% of individuals with TSC will have epilepsy at some point in their lives. There is renewed interest in the therapeutic benefits of cannabis medications, especially for individuals affected by treatment-resistant epilepsy, however clear prescribing guidelines for … Read More