Pangkong Fox, PhD, Science Engagement Director at the CACNA1A Foundation and rare disease mom, discusses patient advocacy in CACNA1A-related disorders.
CACNA1A-related disorders are a group of rare genetic neurological disorders caused by mutations in the CACNA1A gene. Common symptoms include seizures and epilepsy, ataxia, hemiplegic migraines, intellectual disability, and behavioral disorders. There are currently no approved targeted therapies for CACNA1A-related disorders so treatment focuses on symptom management.
The CACNA1A Foundation was founded in 2020 with the mission of finding treatments for the patient community. The organization focuses on advancing research, supporting families, and raising awareness.
Dr. Fox’s son was diagnosed with a CACNA1A-related disorder at the age of six years. His first red flag symptom was missing developmental milestones, such as walking and talking by the age of one. Although his diagnostic journey was on the shorter side for these patients, it took a variety of specialists and a tentative misdiagnosis of cerebral palsy before a correct diagnosis was given.
Diagnosis of CACNA1A-related disorders is made from genetic testing. However, pinning down the correct panels to order can be difficult due to the heterogeneity of symptoms that come with the disorders. Diagnosis is typically discovered through an epilepsy panel test, however not all patients present with seizures.
Dr. Fox’s presentation at the 2025 World Orphan Drug Congress focused on the necessity for transparency and collaboration between industry partners and patient advocacy groups. Patient advocacy groups can be a key relationship due to their established frameworks in supporting drug development and clinical trial design in addition to their proximity to the patient voice. Dr. Fox stresses the importance of considering the patient voice, noting that it can save the pharmaceutical companies time, money, and increase clinical trial enrollment and retention.
To learn more about rare genetic disorders, visit https://checkrare.com/diseases/congenital-and-genetic-conditions/