Ongoing research
1. Study of Adjunctive Ganaxolone Treatment in Female Children With Protocadherin 19 (PCDH19)-Related Epilepsy (Violet Study)
This is a clinical study being carried out by Marinus Pharmaceuticals to evaluate the efficacy, safety, and tolerability of adjunctive ganaxolone therapy compared to placebo for the treatment of seizures in female children and young adults with genetically confirmed PCDH19 gene mutation.
If your child tested positive for the PCDH19 gene pathogenic variant and is suffering from seizures and behavioural disorders, they may be eligible for this clinical trial. Visit https://violetstudy.com/ to find out more and see if your child is eligible to participate.
2. PCDH19 Registry
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. The registry is open to any individual who has been diagnosed with PCDH19-Related Epilepsy.
For more information visit https://www.pcdh19info.org/pcdh19-patient-registry
Support organisations
There are several organisations around the world that provide support, information, and fund research related to PCDH19.
USA: PCDH19 Alliance
http://pcdh19info.org/
France: PCDH19 France
http://www.pcdh19france.fr/
Italy: ONLUS Insieme per la Ricerca PCDH19
www.pcdh19research.org