Breaking Ground: CACNA1A Disease Concept Model Study Presented at American Epilepsy Society Meeting 2024

Written By Lisa Manaster

We’re thrilled to share a major milestone for the CACNA1A community: data from the CACNA1A Disease Concept Model Study was co-presented for the first time at the American Epilepsy Society (AES) meeting. The presentation was led by our Science Engagement Director, Pangkong Fox, PhD, and Ananya Terala from COMBINEDBrain.

About the Disease Concept Model Study

The Disease Concept Model Study is a groundbreaking initiative designed to uncover the key impacts of CACNA1A-related disorders on individuals and their caregivers. By identifying priority symptoms and challenges, this tool helps stakeholders—including the FDA—better understand the full burden of these disorders and the need for targeted treatments.

The study involved 45 participants, including:

  • 19 individuals with CACNA1A-related disorders (ages 2–33)

  • 20 caregivers

  • 4 medical providers

  • 2 educators

Through interviews with caregivers, providers, and educators, the team systematically analyzed the data to gain critical insights into the daily realities of living with CACNA1A-related disorders. While the poster presented at AES excluded provider and educator data, this information will be included in the final published study.

Key Findings

One of the study’s most significant breakthroughs was the identification of symptoms not previously reported in scientific literature, yet profoundly impacting quality of life:

  • Decreased expressive language

  • Gastrointestinal issues

  • Sleep disorders

Other major findings include:

For Caregivers

  • Over 50% report severe anxiety about their child’s future.

  • Financial burdens due to relocating for specialized care and modifying their homes are common challenges.

For Patients

  • High rates of hospitalization and the need for formal educational support.

  • Dependence on assistance for daily activities, like toileting, bathing, and eating.

  • Social isolation, often due to communication barriers.

Early interventions, such as speech, occupational, and physical therapies, were widely reported, underscoring the need for comprehensive, multi-faceted treatment approaches beyond medication alone.

What’s Next?

This critical work is far from over. The full findings, including data from providers and educators, will be published in a detailed paper. Additionally, we’re excited to announce that the study will be presented during a patient listening session with the FDA in mid-2025. This marks the FDA’s first formal introduction to CACNA1A-related disorders—an essential step toward ensuring that future treatments are recognized, supported, and approved.

Thank You!

We extend our heartfelt gratitude to every participant who contributed to this study. Your experiences are driving real progress, advancing our understanding, and amplifying the voice of the CACNA1A community.

Together, we are breaking barriers and building hope!

Lisa Manaster
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