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What you told us at the SIFM

Hello Families,

Thank you for entrusting us and joining us on this journey. We hope that our combined efforts are making things better for our children.  As promised, I want to share key themes that we learned from the community and researchers.  The raw materials from our family break out session, Menti survey results, and more detail on the output from the researcher discussion on day 1 is also shared here.

Along with the input from our researchers at the SIFM, your perspective will shape the direction of the STXBP1 Foundation. From here, the STXBP1 Foundation will consult with our Advisory Board to determine which types of initiatives we will fund and how we will do this.  This process will be announced and will be transparent to the community.

In closing, we look forward to continuing our collaborations with both the research community and our families.  In the coming months we will be preparing for our STXBP1 3rd annual 5K and also AES. There are also opportunities for involvement and hope that we will see many of you there.

Key Themes – Families (Menti Survey & Breakout Sessions):

  • Communication and Cognition are biggest things families would improve (graph)
  • Gene therapy/ MicroRNA and drug repurposing (including natural products) are areas of greatest interest for long-term research
  • Caregivers will know if a therapy is working based on: Reduced seizures, improved communication, cognition, improvement in motor skills, and by reaching milestones
  • 78% of respondents would definitely participate in a Natural History Study
  • 81% of respondents see no hurdles to joining the Simons registry. 
  • When asked about investment in research in the next 1-5 years, the top choices were gene therapy (35%), drug repurposing (23%), & natural history study (15%). The remaining 27% were split among developing new drugs, animal models, & cell-lines (graph)
  • 96% of respondents would potentially consider gene therapy
  • All respondents were willing to engage in some amount travel to a study site and 96% are willing to be hospitalized for at least 1 day
  • The majority of the community choses to invest in research regardless of direct benefit to their child 
  • The majority of respondents (56%) would consider a phase 3 or would use an already marketed medication 
  • When asked to rate mediations they would give, a medication that: “makes nothing worse”, or “if it works on some symptoms” was rated most highly.
  • The community has a low tolerance for risk; 71% would consider only a medication with a low number of minor side-effects

Key Themes – Researchers:

  • A well-designed, FDA-compliant, prospective natural history study is needed
    •  Must know what to track, what therapies to give, and if there are any degenerative aspects of this disorder (outside of epilepsy)
    • Funding options are limited especially without preliminary data
    • It is important to know what happens in adults
  • An understanding what happens when we overexpress: (ie, make too much) STXBP1 in a variety of cell types & animals is needed
  • Animal results vary from lab to lab and a lack of standardization presents challenges. Standardizing and giving open access to animals and technology may help
  • Understanding the biology of what STXBP1 looks like within a species and across different species will help us to better understand this disorder