CASK GENE RESEARCH STUDIES
CASK STUDIES
Driving breakthroughs for treatments and a cure for CASK gene disorders.
While Project CASK is laser-focused on advancing therapeutics to target the root cause and downstream effects of CASK gene mutations, we also support studies focusing on symptom management, disease progression, and patient quality of life. By fostering a comprehensive understanding of CASK gene disorders, we aim to empower patients, families, and healthcare providers with valuable insights that can transform everyday experiences and inform future therapeutic approaches.
**CURRENTLY ENROLLING**
"Identifying biomarkers for epilepsy in patients with CASK-associated pathogenic variants"
Principle Investigator: Dr. Asim Shahid, MD New York-Presbyterian Brooklyn Methodist Hospital
Rawan Elhag, PGY-1 resident
Oksana Nulman, Research Coordinator
Key information for CASK community members
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Watch the webinar with Dr. Shahid on Epilepsy and the CASK study, linked below
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Video on accessing your EEG tracings (coming soon)
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To get involved in the study, contact the CASK study team at BMHpedsresearch@nyp.org or 917-428-5317
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Questions or need help accessing your records? Feel free reach out to Project CASK at research@projectcask.org
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Watch the webinar here
This study aims to develop an understanding of seizures in people with CASK gene disorders. It will help doctors identify which combination of symptoms or characteristics may increase the likelihood of seizures developing. This, in turn, can guide more effective and proactive treatments, leading to better overall care for children with CASK-related seizures or epilepsy.
**The study is currently enrolling participants who are residents of the United States.**
