The PCDH19 Family Network is a non-profit organization dedicated to accelerating the development of treatments and ultimately a cure for PCDH19 clustering epilepsy (also known as Epilepsy and Intellectual Disability in Females, or EFMR), a rare X-linked neurodevelopmental disorder caused by pathogenic variants in the PCDH19 gene. Founded by parents of children with PCDH19 variants, the Network serves as the primary patient advocacy organization for the PCDH19 community, funding research, supporting clinical trials, connecting families, and advocating for regulatory policies that accelerate therapy development.
To drive the development of effective treatments and a cure for PCDH19 clustering epilepsy by funding innovative research, facilitating clinical trials, providing comprehensive family support, and advocating for regulatory policies that enable rapid therapy development and global access.
The PCDH19 Family Network was founded in 2016 by a group of parents whose children were diagnosed with PCDH19-related epilepsy. The organization was established in response to the lack of treatment options and limited research funding for this rare condition:
- 2016: Initial formation as a parent support group
- 2017: Registered as 501(c)(3) non-profit organization
- 2018: Launched first research grant program
- 2019: Established patient registry and natural history study
- 2020-2025: Expanded to international family support and clinical trial advocacy
The PCDH19 Family Network is the primary non-governmental funder of PCDH19-specific research:
- Annual research grants: Competitive grant cycles supporting basic science, translational, and clinical research on PCDH19 clustering epilepsy. Priority areas include:
- Gene therapy approaches for PCDH19
- Understanding the cellular interference mechanism
- Small molecule modulators
- Biomarker identification and validation
- Natural history studies and endpoint development
- Natural history study support: Funding and patient recruitment for PCDH19 natural history registries
- Preclinical consortium: Collaborative programs that share data, animal models, and resources across academic labs working on PCDH19
- Model development: Support for creation and characterization of PCDH19 mouse and cell models
The Network plays a critical role in connecting patients with clinical trials and therapy development:
- Trial matching: Direct patient-to-trial referrals through the Network's patient registry
- Site identification: Working with companies to identify suitable clinical trial sites with PCDH19 expertise
- Patient education: Informing families about trial eligibility, risks, and expectations through webinars and educational materials
- Industry partnerships: Facilitating partnerships between academia and industry for PCDH19 therapy development
¶ Patient and Family Support
- Family conferences: Annual family conference bringing together patients, families, researchers, and industry representatives
- Family support programs: Emergency funds, equipment assistance, and family connection programs
- Registry: Patient registry with genetic data, clinical information, and longitudinal follow-up enabling research recruitment
- Online communities: Active online communities connecting families for peer support
- Regional coordinators: Local family liaisons in North America and Europe
The Network engages with regulatory agencies worldwide:
- FDA engagement: Participation in FDA Patient-Focused Drug Development meetings
- Orphan drug designation: Supporting companies seeking orphan drug designation
- Accelerated approval pathways: Advocating for regulatory frameworks that enable faster access to transformative therapies
- International engagement: Collaboration with regulatory agencies in Europe and other regions
The Network has helped catalyze a growing therapeutic pipeline for PCDH19 clustering epilepsy:
| Program |
Type |
Stage |
Developer |
| PCDH19 gene therapy |
Gene replacement |
Preclinical |
Vigonvita Sciences |
| ASO approaches |
Splice modulation |
Discovery |
Academic groups |
| Small molecule modulators |
Channel/cell function |
Preclinical |
Various |
- Vigonvita Sciences: AAV-based PCDH19 gene therapy in preclinical development
- Academic programs: Multiple academic groups working on PCDH19 mechanisms and therapeutic approaches
- Understanding cellular interference: Research into the unique mechanism of PCDH19 pathology is informing therapeutic strategies
The Network supports natural history research for PCDH19 clustering epilepsy:
- Sponsor: PCDH19 Family Network in partnership with academic medical centers
- Cohort: N=50+ patients with confirmed PCDH19 variants
- Endpoints: Seizure clustering patterns, developmental outcomes, EEG patterns
- Status: Ongoing, recruitment open
- Regulatory value: Natural history data supporting clinical trial design and potential external control data
- Diagnostic guidance: Information for families navigating the diagnostic process
- Genetic counseling: Resources for understanding PCDH19 inheritance patterns
- Newly diagnosed packets: Comprehensive information packages for newly diagnosed families
- Medical guidelines: Information about seizure management in PCDH19
- Therapy guides: Information about available therapies
- Cluster management: Guidelines for managing seizure clusters, including rescue medication protocols
- Developmental support: Resources for developmental interventions
PCDH19 clustering epilepsy has unique features that the Network addresses:
- Cellular interference mechanism: Education about the unique X-linked inheritance and mosaicism
- Female predominance: Resources specific to the predominantly female patient population
- Cluster pattern: Specific guidance on recognizing and managing seizure clusters
The Network has identified key therapeutic targets and research priorities:
- Gene therapy: AAV-delivered PCDH19 to restore functional protein expression
- Mechanism understanding: Further research into cellular interference to guide therapeutic development
- ASO approaches: Antisense oligonucleotides to modulate PCDH19 expression
- Biomarker development: Quantitative biomarkers for endpoint measurement
- Natural history: Continued data collection to support regulatory submissions
¶ Competitive Landscape
The PCDH19 therapy field is emerging, with the Network playing a central coordinating role:
| Program |
Company/Group |
Modality |
Phase |
| AAV-PCDH19 |
Vigonvita Sciences |
Gene therapy |
Preclinical |
| PCDH19 ASO |
Academic groups |
Splice modulation |
Discovery |
| Small molecules |
Various |
Modulators |
Preclinical |
- Join the PCDH19 Family Network patient registry
- Attend annual family conferences
- Connect with family coordinators
- Participate in natural history studies
- Apply for research grants through annual grant cycles
- Access PCDH19 model systems and data
- Collaborate through the research community
- Partner on clinical trial design and site selection
- Access patient registry for recruitment support
- Engage with research and advocacy initiatives
- PCDH19 Family Network Official Website
- PCDH19 Clustering Epilepsy Disease Page
- PCDH19 Gene Page
- Vigonvita PCDH19 Program