SIFM 2019 Results – What We Learned from You
Day 1 – Researcher Session
Following a full day of multi-disciplinary presentations on Day 1 ranging from clinical presentations, animal models, and potential therapies we held a breakout session. Researchers were asked to describe the most important problems and the immediate next steps.
Key Themes – Researchers:
- A well-designed, FDA-compliant, prospective natural history study is needed
- Must know what to track, what therapies to give, & 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 over-express: (ie, make too much) STXBP1 in a variety of cell types & animals is needed
- Animal results vary from lab to lab & 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.
Day 2 – Family Breakout sessions
Once families were able to watch a series of presentations geared for caregivers, they were asked to break-out into small groups and to answer a question from a list. These questions were intended to be provocative and to spark discussion among the groups. One member was tasked with reporting back to the group.
Results are posted here.
Prior to the breakout sessions, families engaged in a set of interactive questions and then finished the questions on their own and results are posted here.
Key Themes – Families (Menti Survey & Breakout Sessions):
- Communication & Cognition are biggest things families would improve (graph)
- Gene therapy/ MicroRNA & 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, & 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 & 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