The PCDH19 Family Network is a non-profit organization dedicated to accelerating the development of treatments and ultimately a cure for [PCDH19 clustering epilepsy](/diseases/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](/entities/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.
Mission
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.
History
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
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Overview
The PCDH19 Family Network is a non-profit organization dedicated to accelerating the development of treatments and ultimately a cure for [PCDH19 clustering epilepsy](/diseases/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](/entities/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.
Mission
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.
History
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
Key Activities
Research Funding
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
Clinical Trial Support
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
Regulatory Advocacy
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
PCDH19 Therapeutic Pipeline
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 |
Key Programs to Watch
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
Natural History Studies
PCDH19 Natural History Study
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