What We’re Learning: Insights From Surveying the CACNA1A Community
This post dives into some of the conclusions that were found through surveys completed by CACNA1A community members. Topics include:
Diagnosis
Symptom impact and frequency
Treatment strategies
Read the whole post below to learn more.
A core part of our Fastest Path Forward scientific strategy is drawing on the knowledge that has been generously shared by our community. One of the ways we've been able to do so is by analyzing data that has been previously shared through surveys. Here is some of what we've learned so far:
CACNA1A Quality of Life Survey
Starting in 2023, more than 100 members of our community completed a 14-question survey aimed at identifying and ranking priorities surrounding treatments for CACNA1A-related disorders. The questionnaire captured responses from adults with or family members/caregivers of individuals living with these conditions. You told us which symptoms have the greatest impact on daily life and what you’d like to see prioritized in future treatments.
CACNA1A Clinical Assessment Intake Survey
In 2024, we launched the CACNA1A Clinical Assessments Research Study (CCARS) as a way to evaluate different tools/scales used to measure movement-related symptoms in CACNA1A-related disorders. In addition to in-person clinical assessments, this study asked 21 caregivers of individuals with CACNA1A-related disorders to complete a survey about symptoms and treatment approaches related to movement, vision, epilepsy, migraines, and neurodevelopment.
Want to see more?
More of the data collected from these surveys were analyzed and used to make posters that were displayed at the 2026 Creating Connections Community Conference.
Follow the links to take a look:
CACNA1A Quality of Life Survey Poster
CACNA1A Clinical Assessment Intake Survey Poster
Thank you!
None of this would be possible without those of you who took the time to share your experiences with us. Thank you for helping us learn, and move us further along the Fastest Path Forward.
