The PCDH19 Alliance is a non-profit organization dedicated to supporting families affected by PCDH19-related epilepsy (formerly known as Epilepsy Female with Mental Retardation, EFMR) and advancing research on this rare X-linked genetic disorder. The organization serves as the primary patient advocacy group for the PCDH19 community in the United States and internationally.
To improve the quality of life for individuals with PCDH19-related epilepsy and their families through research funding, family support, education, and advocacy.
The PCDH19 Alliance was founded by families of children diagnosed with PCDH19-related epilepsy. Recognizing the uniqueness of this female-specific X-linked condition, the foundation was established to unite the community and accelerate scientific understanding and therapy development.
PCDH19-related epilepsy is a rare X-linked genetic disorder caused by variants in the PCDH19 gene. Key characteristics include:
- Seizure onset: Typically within the first year of life (often 6-12 months)
- Seizure types: Multiple seizure types including febrile seizures, tonic-clonic, myoclonic, and atypical absence
- Cluster seizures: Characteristic pattern of seizures occurring in clusters
- Intellectual disability: Varying degrees of cognitive impairment
- Developmental delays: Motor and speech delays
- Behavioral issues: Some patients exhibit autism-like behaviors
- Female predominance: Primarily affects females due to X-linked inheritance pattern
PCDH19-related epilepsy has a unique mechanism called "cellular interference." Unlike typical X-linked dominant disorders, PCDH19 variants cause a cell-non-autonomous effect where both mutant and wild-type cells are affected due to improper cell-cell adhesion during development.
- Basic science research: Supporting research on PCDH19 function and disease mechanisms
- Therapy development: Funding gene therapy, ASO, and small molecule programs
- Natural history studies: Understanding disease progression
- Preclinical models: Supporting development of animal and cellular models
- Patient registry: Database of PCDH19 patients for research recruitment
- Trial matching: Connecting families with relevant clinical trials
- Site development: Supporting clinical trial infrastructure
- Family conferences: Annual gatherings for families to connect and learn
- Family registry: Comprehensive patient registry with genetic and clinical data
- Support network: Connecting families for peer support
- Resource library: Educational materials about PCDH19
¶ Awareness and Advocacy
- Rare disease advocacy: Working with coalitions to advocate for rare disease research
- Awareness programs: Raising awareness of PCDH19-related epilepsy
- Regulatory engagement: Participation in FDA rare disease initiatives
- Vigonvita Sciences: PCDH19 gene therapy program
- Various pharmaceutical companies developing PCDH19 therapies
- University of Washington
- Boston Children's Hospital
- Murdoch Children's Research Institute (Australia)
Annual conference bringing together families, researchers, clinicians, and industry representatives.
Awareness event to educate about PCDH19-related epilepsy.
- Patient registry: PCDH19 patient registry
- Family resources: Educational and care materials
- Clinical information: Information about available treatments and trials
- PCDH19 Alliance Official Website
- PCDH19 Patient Registry
- PCDH19 Research Foundation