Join our Facebook group for families affected by PCDH19 Epilepsy for updates on research

If you or a loved one are affected by PCDH19 Epilepsy you can join our Facebook page for updates on ongoing PCDH19 research. This group is an international information group co-run by The Cute Syndrome and our partners in Spain and France. Click on the link above and request to join the group. We will respond to confirm (check your "Other" for our message. Otherwise, email me directly to be admitted.

Marinus Pharmaceuticals PCDH19 Epilepsy Clinical Trial

​Marinus Pharmaceuticals announces a plan for initiating an open-label Phase 2 proof-of-concept clinical trial under an expanded access protocol under our epilepsy IND in up to 10 patients with PCDH19 female pediatric epilepsy. Visit Marinus Pharmaceuticals for more information. ​

Check out RARE Toolkits to help advocate for your family member with PCDH19 Epilepsy

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RARE Toolkits provide individuals with usable information on a variety of topics related to living with and/or advocating for rare disease patients. RARE Toolkits are being created in collaboration with key rare disease stakeholders that have developed a vast array of subject matter expertise and believe in the importance of sharing these best practices. RARE Toolkits are interactive and will continue to evolve as advocates share additional best practices around specific topics. These important resources are being made available online, as a print version that can be downloadable in a PDF format, and in print.

Boston Children's Hospital Epilepsy Genetics Program and PCDH19 Patient Registry

The Epilepsy Genetics Program at Boston Children's Hospital is doing amazing work on PCDH19 Epilepsy. They treat the largest number of cases of PCDH19 Epilepsy in the country, are a center for the PCDH19 Epilepsy Registry, and conduct PCDH19 Epilepsy Zebrafish Research (which The Cute Syndrome has helped support!). Learn more about the work your contributions have helped support at Children's...

If you wish to be enrolled in the PCDH19 Epilepsy Patient Registry, contact the Registry Coordinator (Lacey Smith) at: PCDH19registry@childrens.harvard.edu or (857) 218-3239.