Early treatment with sirolimus shows promise for infants with TSC

12 Aug 2024 - 2 min read - Share on Facebook, LinkedIn or by email.
TSA Insights Research 354 x

Quicklinks

TSA supports research to further understand the safety and efficacy of early mTOR inhibitor treatments in preventing or delaying seizure onset in babies with TSC. This is the purpose of the TSC-STEPS trial being undertaken by Sydney Children’s Hospital and its global partners. 

Dr Darcy Krueger and the team at Cincinnati Children’s Hospital are leading the TSC-STEPS trial. They have recently published an article on STOP2A – an earlier clinical trial involving 5 infants diagnosed with TSC who were younger than 6 months with no history of seizures who were (pre-symptomatically) treated with sirolimus until they reached 12 months of age.

Key findings

  • Adverse Events: 92 adverse events were reported, with 34 related to treatment. Only 2 were severe, and all were resolved by 24 months.
  • Tolerability: Sirolimus was well tolerated, with less than 8% of doses held due to adverse events.
  • Seizure and Developmental Outcomes: By 24 months, 3 of the 5 patients developed seizures, which were well controlled with medication. Four of the 5 had normal cognitive development, with one diagnosed with possible autism spectrum disorder (ASD).

You can read the full article here. 

Implications of the study

The results of this small, Phase 1 trial suggest that sirolimus is safe and well-tolerated in infants with TSC, showing a promising efficacy profile compared to previous TSC cohorts not treated with early sirolimus. 

The results of the STOP2A study supports further investigation into sirolimus as a preventative treatment – which is now progressing in the Phase 2 clinical trial TSC-STEPS.

TSC-STEPS Research Trial

Sydney Children’s Hospital in Randwick is recruiting infants aged 0 to 6 months diagnosed with TSC, who have no history of seizures, to participate in the TSC-STEPS research trial. This study seeks to further understand the safety and efficacy of early sirolimus treatment in preventing or delaying seizure onset.

While there is no financial compensation for participation, TSA can assist with travel and accommodation costs for families outside Sydney, including interstate participants.

For more information, visit: www.clinicaltrials.gov (identifier NCT05104983)

Or contact: Dr. Denise Chan    email: [email protected]

DISCLAIMER

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.