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mTOR inhibitor treatment in TSC children under 2 years of age

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 a range of TSC-related symptoms including cardiac rhabdomyomas; SEGAs, refractory epilepsy and one case of disabling congenital lymphoedema.

All the children in the study were prescribed everolimus, which was tolerated well with only mild side effects including an increase in cholesterol and mild transient stomatitis (mouth ulcers).

14 of the 17 children – over 80% – experienced an improvement in symptoms such as a decrease in cardiac rhabdomyoma or SEGA size and regression of lymphoedema.  Of the 3 children who did not improve, 2 had no improvement in seizures, and another had no change in their SEGA size.

Why is this study important?

There is only very limited information on the safety and efficacy of mTOR treatments in children in the first 2 years of life.  TSC-related early onset epilepsy and infantile spasms in the first year of life are important risk factors for mental impairment and autism spectrum disorder, and it is thought that early initiation of treatment with mTOR inhibitors may reduce the risk of neuropsychiatric deficits.

What does this study tell us?

Treatment with mTOR inhibitors in children aged under the age of 2 appears to be safe and effective. However, this is a small study, and the authors say that due to the size (only 17 children), they cannot draw solid conclusions about the potential benefits of early intervention with everolimus in regards to neurodevelopmental outcomes.  This study does however provide a template for more studies to evaluate the benefits of early intervention with everolimus in young children with TSC.

For more information on mTOR inhibitors see https://tsa.org.au/mtor-inhibitors-in-tsc/

Saffari et al, Orphanet J Rare Dis. 2019 May 3;14(1):96. doi: 10.1186/s13023-019-1077-6.



This information is intended to provide some insights into recent TSC-related research.  It is not intended to, and it should not, constitute medical or other advice.  Readers are warned not to take any action without first seeking medical advice.

Further Information

Citations to the full research articles/papers (and links where possible) are included for those who would like to know more.  TSA’s nurse service is also available and offers a free, confidential information and support service which provides TSC information and links to practical support. You can contact Kim, the TSA nurse, by phoning 1300 733 435, emailing [email protected] or visiting https://tsa.org.au/tsa-nurse/

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