The STXBP1 Foundation is a non-profit organization dedicated to supporting families affected by STXBP1 encephalopathy (also known as STXBP1 developmental and epileptic encephalopathy) and advancing research on this rare genetic disorder. The organization serves as the primary patient advocacy group for the STXBP1 community.
To improve the quality of life for individuals with STXBP1 encephalopathy and their families through research funding, family support, education, and advocacy.
The STXBP1 Foundation was founded by parents of children diagnosed with STXBP1 encephalopathy. The organization was established to address the lack of dedicated research and support for this genetic disorder that causes epilepsy and developmental delays.
STXBP1 encephalopathy (also known as STXBP1-DEE or STXBP1-related developmental and epileptic encephalopathy) is a rare genetic disorder caused by variants in the STXBP1 gene (also known as MUNC18-1). Key characteristics include:
- Seizure onset: Typically within the first year of life
- Seizure types: Multiple types including infantile spasms, tonic-clonic, myoclonic, and focal seizures
- Epilepsy syndrome: Often classified as West syndrome or other DEE
- Intellectual disability: Typically severe cognitive impairment
- Developmental delays: Significant motor and speech delays
- Movement disorders: Some patients exhibit ataxia, dystonia, or other movement issues
- Autism spectrum disorder: Many patients meet criteria for ASD
STXBP1 encodes MUNC18-1, a protein essential for synaptic vesicle release and neurotransmitter exocytosis. Pathogenic variants impair synaptic transmission, particularly GABAergic inhibition, leading to seizures and developmental dysfunction.
- Research grants: Supporting basic science and translational research on STXBP1
- Therapy development: Funding gene therapy, ASO, and small molecule programs
- Natural history studies: Understanding disease progression and identifying outcome measures
- Preclinical models: Supporting development of animal and cellular models
- Patient registry: Database of STXBP1 patients for research recruitment
- Trial matching: Connecting families with relevant clinical trials
- Site development: Supporting clinical trial infrastructure
- Industry partnerships: Facilitating engagement between families and companies
- 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 STXBP1
- Rare disease advocacy: Working with coalitions to advocate for rare disease research
- Awareness programs: Raising awareness of STXBP1 encephalopathy
- Regulatory engagement: Participation in FDA rare disease initiatives
- Various pharmaceutical companies developing STXBP1 therapies
- Research organizations focused on gene therapy
- University of Michigan
- Boston Children's Hospital
- Various epilepsy research centers worldwide
Annual conference bringing together families, researchers, clinicians, and industry representatives.
Annual awareness event to educate about STXBP1 encephalopathy.
- Patient registry: STXBP1 patient registry
- Family resources: Educational and care materials
- Clinical information: Information about available treatments and trials
- STXBP1 Foundation Official Website
- STXBP1 Patient Registry
- STXBP1 Research