THE PATIENT REGISTRY
The PCDH19-Related Epilepsy Registry Is Now Enrolling!
With funding provided by the PCDH19 Alliance, researchers at UCSF Benioff Children’s Hospital and Boston Children’s Hospital have created a registry for individuals with PCDH19-Related Epilepsy. The registry is an important tool to help researchers gain a better understanding of PCDH19-Related Epilepsy and ultimately develop more effective treatment options. If you or your child has been diagnosed with PCDH19-Related Epilepsy, your participation could help advance the knowledge of PCDH19-Related Epilepsy!
In creating and maintaining a meaningful registry of patients with PCDH19-related epilepsy, our shared goals are to better understand the full range of clinical features that are associated with PCDH19 (including epilepsy and behavioral aspects) and to provide a resource of natural history data. As the promise of gene-specific medication is now on the horizon for epilepsy, it is critical that the PCDH19 phenotype be well defined so that there can be clear goals and outcomes to measure in any future clinical trial.
How the Registry is Helping:
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Researchers will be better able to define the range of medical and developmental features associated with PCDH19-Related Epilepsy. This may help doctors provide more complete and accurate information for individuals and their families at the time of diagnosis and throughout their lives.
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Researchers may use the information to develop new treatments specific to PCDH19-Related Epilepsy and begin clinical trials for new or existing medications.
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Participants may learn more quickly about clinical trials when they become available.
Enroll in the Registry
Participation in the registry is easy. All we will ask of you is to answer some questions about your/your child’s medical history, and to provide us with a copy of your/your child’s medical record.
Get started now:
Contact UCSF Benioff Children’s Hospital or Boston’s Children Hospital. Interpreters are available by appointment, and this is open internationally.
West Coast Families contact UCSF Benioff Children’s Hospital – Dr. Nilika Singhal directly at nilika.singhal@ucsf.edu or call their epilepsy call center and leave a message at 415-353-2437
East Coast Families contact Boston Children’s Hospital – Lacey Smith, Licensed Genetic Counselor directly at PCDH19Registry@childrens.harvard.edu or call Lacey at 857-218-3239
If you have any questions about the registry or PCDH19 Epilepsy, please don’t hesitate to contact us.
