STXBP1 Foundation
STXBP1 Foundation is a 501(c)(3) parent-led nonprofit founded in 2017 that accelerates research and clinical trial readiness for STXBP1-Related Disorders, a rare genetic epilepsy, serving 1,157+ patients, researchers, clinicians, and biotech developers worldwide.
- Company typePrivate
- Founded2017
- HeadquartersPhiladelphia, United States
- Headcount1–10
- GTM typeB2B and B2C
- OfferingServices
What STXBP1 Foundation does
STXBP1 Foundation is a 501(c)(3) nonprofit patient advocacy organization (EIN #82-1439459) founded in 2017 by a group of parents of children affected by STXBP1-Related Disorders, a rare neurodevelopmental condition and genetic epilepsy estimated to affect 1 in 30,000 births. The Foundation operates as the central coordinating entity for the STXBP1 community, maintaining a global patient census of 1,157+ individuals across 44+ countries and serving four primary constituencies: patient families, academic researchers, clinicians, and pharmaceutical/biotech developers. It works to accelerate research and clinical trial readiness by funding grants, organizing the annual Summit+ conference, hosting fundraising events such as the Million Dollar Bike Ride and the FLOURISH campaign, and convening collaborations across the rare pediatric epilepsy landscape with peer organizations including Syngap Research Fund, Rett Syndrome Research Trust, CACNA1A Foundation, Loulou Foundation (CDKL5), and KCNQ2 Cure Alliance.
The Foundation does not develop commercial technology products; its core "platform" is the STARR natural history study (170+ participants) plus integrated data relationships with Ciitizen, Simons Searchlight, and RARE-X for longitudinal patient data. It has secured a regulatory asset in ICD-10 code QA0.0141 (effective October 2025), hosted an FDA Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting, and supports an active therapeutic pipeline of 18+ treatments in development, including the Capsida Biotherapeutics CAP-002 gene therapy program. Scientific direction is provided by Scientific Director James R. Goss, PhD, under President and Co-Founder Charlene Son Rigby.
The Foundation's business model is purely donation- and grant-driven: it raises revenue through the FLOURISH campaign, the Million Dollar Bike Ride, Move To Cure 5K, September Awareness Month initiatives, and direct family fundraising, and reinvests proceeds into research grants (e.g., $100K Innovation Grants to UC Davis, UCSF, and Buffalo labs) and natural history study infrastructure. Clinical site partners include Children's Hospital of Philadelphia, Baylor College of Medicine, Weill Cornell Medicine, UCSF, UC Davis, Cincinnati Children's Hospital, Stanford Children's Health, and Children's Hospital Colorado.
STXBP1 Foundation firmographics
Firmographics- Name
- STXBP1 Foundation
- Legal name
- STXBP1 Foundation
- Website
- https://stxbp1disorders.org
- Company type
- Private
- Founded year
- 2017
- Operating status
- Operating
- Headcount range
- 1–10 employees
- Short description
- STXBP1 Foundation is a 501(c)(3) parent-led nonprofit founded in 2017 that accelerates research and clinical trial readiness for STXBP1-Related Disorders, a rare genetic epilepsy, serving 1,157+ patients, researchers, clinicians, and biotech developers worldwide.
- Ownership category
- akta.pro rank
STXBP1 Foundation industry classification
Industry- Product category
- Patient Advocacy Nonprofit
- NAICS
- Voluntary Health Organizations (813212)
- SIC
- Services-Health Services (8000)
- akta.pro primary industry
- Disease-Specific Research & Support (e.g., Cancer, Diabetes, ALS) (BPAGACAA)
- akta.pro secondary industries
- Health & Medical Research Grantmaking Foundations (BPAGAKAL), Research & Science Grantmaking Foundations (BPAGAKAI)
Keywords
Where STXBP1 Foundation is headquartered
LocationHeadquarters
- HQ city
- Philadelphia
- HQ country
- United States
- HQ region
- North America
Offices1 record
Markets served
STXBP1 Foundation business model
Business model- GTM type
- B2B and B2C
- Offering type
- Services
- Cost components
- Personnel, Marketing or Sales, Technology or R&D, Operations, Others
Revenue model
- Donations and Fundraising: STXBP1 Foundation generates revenue through charitable donations from individuals, families, and supporters. They run fundraising campaigns including the FLOURISH campaign and annual events.
- Patient Assistance Programs: The foundation offers Patient Assistance Programs to defray travel-related expenses for families participating in clinical studies and trials.
Go-to-market motion2 records
Distribution channels3 records
Marketing channels10 records
STXBP1 Foundation product offering
Product offeringCore offering
STXBP1 Foundation is a 501(c)(3) nonprofit patient advocacy organization that operates as the central hub for the STXBP1-Related Disorders community. It funds academic and biotech research through Innovation Grants and the Million Dollar Bike Ride program, runs the STARR natural history study and associated patient registries, and provides educational resources, family support, and clinical trial navigation for patients affected by this rare genetic epilepsy (1 in 30,000 births). The foundation also leads advocacy efforts such as securing the ICD-10 code QA0.0141 and convening an annual Summit+ conference for researchers, clinicians, and families.
Product overview
STXBP1 Foundation is a 501(c)(3) nonprofit patient advocacy organization, not a technology product company. The organization does not offer commercial software products or services. Instead, it provides patient advocacy, raises awareness, funds STXBP1-related research, connects patients with natural history studies, and offers resources and support for families affected by STXBP1-Related Disorders. The foundation facilitates participation in research studies including the STARR natural history study, Simons Searchlight, Citizen Health, and RARE-X data collection programs.
Differentiator
Problem solved
Functional benefit
Products and services
- STARR Natural History Study A multi-site clinical natural history study for STXBP1-Related Disorders, designed to provide regulatory-grade longitudinal data for clinical trial readiness. Enrollment is open to STXBP1 patients and families through clinical sites including CHOP, Baylor College of Medicine/Texas Children's Hospital, Children's Hospital Colorado, Weill Cornell Medicine, Cincinnati Children's Hospital, and Stanford Children's Health.
- Patient Assistance Program Foundation-run program to defray travel-related expenses for families participating in STXBP1 clinical studies and trials, addressing the travel burden associated with access to specialty clinical sites.
- Innovation Grants Program Research grant program funding academic investigators at institutions such as UC Davis, UCSF, and University of Buffalo to advance STXBP1 research, including CRISPR activation gene therapy, high-throughput zebrafish drug screening, AAV9-based gene therapy, and respiratory cilia research.
- Annual Summit+ Conference Annual conference (held at CHOP) that convenes STXBP1 researchers, clinicians, and families for research presentations, networking, and community building. Includes a dedicated Researcher Roundtable track for scientific collaboration.
- Global Patient Census Quarterly global patient census tracking STXBP1 patients across 44+ countries (1,157+ patients as of Q3 2024, with 44% Europe, 32% North America, 16% Asia Pacific, 8% Rest of World), including 140 adults aged 18+. Data is collected through the STXBP1 Global Connect liaison network.
- FLOURISH Fundraising Campaign Transformational fundraising campaign led by the Finn Beaubien family, raising $1.3M+ for the STARR study and clinical trial readiness. Family-driven peer-to-peer fundraising initiative that supports STXBP1 research infrastructure.
Quantifiable outcome
- 1,157+ patients registered in global census (Q3 2024)
- +5 more outcomes
Companies that use STXBP1 Foundation
Customer profileNamed customers7 records
Segments4 records
Ideal customer profiles4 records
STXBP1 Foundation technology and API
TechnologyTechnology focussed No
API detail
- Has API
- No
- API docs
- API detail
Core technology
AI maturity
App detail
STXBP1 Foundation partnerships and signals
Strategic signalPartnerships
26 partnerships are on record, tiered core and major.
- Syngap Research Fund (SRF)coreCo-funded $275,000 grant to Dr. Orrin Devinsky at NYU for seizure classification study. One of six rare disease organizations collaborating on clinical trial readiness research.
- Rett Syndrome Research TrustcoreCo-funder of Dr. Devinsky's seizure classification research. Collaborative effort across rare epilepsy organizations.
- CACNA1A FoundationcoreCo-funder of Dr. Devinsky's seizure classification research.
- Loulou Foundation (CDKL5)coreCo-funder of Dr. Devinsky's seizure classification research.
- KCNQ2 Cure AlliancecoreCo-funder of Dr. Devinsky's seizure classification research.
- Children's Hospital ColoradocoreSTARR natural history study clinical site, part of the expansion in Phase 2 of the study.
- Baylor College of Medicine / Texas Children's HospitalcoreSTARR natural history study clinical site and research partner. Houses Dr. Mingshan Xue's lab conducting gene therapy research (CAP-002) with Capsida Biotherapeutics.
- Weill Cornell MedicinecoreSTARR natural history study clinical site for clinical trial readiness research.
- Cincinnati Children's HospitalcoreAdded as STARR clinic site in Phase 2 expansion, funded by the Glazer Family.
- Stanford Children's HealthcoreAdded as STARR clinic site in Phase 2 expansion to reduce travel burden for families on the West Coast.
- Capsida BiotherapeuticscoreCollaboration on CAP-002 gene therapy for STXBP1 disorders. Capsida developed first-in-class IV-administered gene therapy achieving brain-wide neuronal expression. Received orphan drug designation. CAP-002 SYNRGY clinical trial underway.
- Children's Hospital of Philadelphia (CHOP)coreCollaboration on the STARR natural history study for clinical trial readiness. CHOP serves as the lead site for STXBP1 clinical research, housing the ENDD (Center for Epilepsy and Neurodevelopmental Disorders) and hosting the STXBP1 Summit+ conference annually.
- Ciitizen (Citizen Health)corePartnership to develop a digital natural history study using medical records. Ciitizen's platform enables patients to share health records with researchers, consolidating data from multiple hospitals. Study enrolled 150 participants globally.
- Simons SearchlightcoreNatural history study partnership collecting neurodevelopmental, medical, and autism data. Simons provides patient-reported outcomes and bio-samples. Data integrated with Ciitizen for comprehensive patient records.
- RARE-XcoreCollaborative platform for global data sharing and analysis for rare disorders. RARE-X collects cross-symptom survey data including neurological, GI, motor, and vision information. Integrated with Citizen Health data platform.
- RarebasemajorNeuroscience drug discovery platform collaboration with STXBP1 Foundation and 14 other rare disease patient organizations.
- Jacqueline Burre Lab / Zachary Grinspan, Weill CornellcoreFirst clinical trial for STXBP1 - 4-phenylbutyrate (4PB) targeting the STXBP1 protein. Funded by ODC Million Dollar Bike Ride and Clara Inspired.
- Orphan Disease Center (University of Pennsylvania)majorMillion Dollar Bike Ride grants for STXBP1 research. Awarded $71,658 grants to Jimmy Holder (Baylor) and Christopher Makinson (Columbia) for STXBP1 studies.
- Kyle Fink Lab, UC Davismajor$100,000 Innovation Grant for CRISPR activation gene therapy to restore STXBP1 expression. Dr. Fink is Associate Director of Gene Therapy Center, developing next-generation gene therapies for neurodevelopmental disorders.
- Scott Baraban Lab, UCSFmajor$100,000 Innovation Grant for high-throughput drug screen in zebrafish. Dr. Baraban performs large-scale phenotypic drug screening using STXBP1 zebrafish model to discover FDA-approved drug candidates.
- Soo-Kyung Lee Lab, University of Buffalomajor$100,000 Innovation Grant for AAV9-based gene therapy development. Funded by donor for STXBP1 patients Mackenzie and Megan Mitchell.
- Helen Willsey Lab, UCSFmajorInnovation Grant for studying STXBP1's role in respiratory cilia and breathing complications. Research uses patient-derived nasal brush cultures and frog models to understand respiratory issues in STXBP1 patients.
- STXBP1 Global ConnectcoreGlobal network of country liaisons and associations connecting STXBP1 families worldwide. Collaborates on quarterly census data collection.
- European STXBP1 Consortium (ESCO)coreEuropean natural history study harmonized with STARR study protocol. ESCO registry tracking 145+ European patients.
- FLOURISH Campaign (Finn Beaubien Family)majorTransformational fundraising campaign led by the Finn Beaubien family raising $1.3M+ for STARR study and clinical trial readiness.
- ENDD Center, Penn MedicinecoreCenter for Epilepsy and Neurodevelopmental Disorders providing co-funding for STARR study and clinical trial infrastructure.
Scale indicators9 records
Recent moves6 records
Expansion highlights6 records
STXBP1 Foundation competitors and assessment
Company assessmentDirect peers
- CACNA1A Foundation: Disease-specific foundation for CACNA1A-related disorders, another rare neurodevelopmental condition. Co-funds joint rare epilepsy research grants and operates with similar parent-led 501(c)(3) structure.
- Rett Syndrome Research Trust: Disease-specific foundation for Rett syndrome, another rare genetic neurodevelopmental disorder with active gene therapy programs. Co-funder on the Devinsky seizure classification study; operates a similar research-funding and natural history model at larger scale.
- Loulou Foundation (CDKL5 Deficiency Disorder): Foundation dedicated to CDKL5 deficiency disorder, a rare genetic epilepsy with similar patient population size and ultra-rare drug development challenges. Direct collaborator on multi-foundation research initiatives.
- KCNQ2 Cure Alliance: Foundation focused on KCNQ2-related epilepsy, a rare genetic neonatal-onset epilepsy. Co-funded the Devinsky study and serves a comparable role in its disease community with similar natural history and gene therapy approaches.
- Dravet Syndrome Foundation: Established foundation for Dravet syndrome, a well-known rare genetic epilepsy. Operates a more mature version of the STXBP1 Foundation model with FDA-approved therapies (e.g., Fintepla) validating the rare epilepsy drug development pathway.
- Tuberous Sclerosis Alliance: Mature rare genetic disorder foundation with FDA-approved therapies (mTOR inhibitors) and a sophisticated natural history/registry infrastructure. Represents a more developed endpoint of the same organizational trajectory.
- Syngap Research Fund (SRF): Disease-specific 501(c)(3) focused on SYNGAP1, another rare genetic neurodevelopmental disorder with overlapping epilepsy phenotype. Direct collaborator on the $275K Devinsky grant and similar ultra-rare genetic epilepsy foundation model.
Broad incumbents
- CURE Epilepsy: Larger, established epilepsy research foundation that funds across all epilepsies rather than a single genetic subtype. Represents the broader incumbent that STXBP1 Foundation complements or competes with for research funding and donor dollars.
- Orphan Disease Center (University of Pennsylvania): University-based center that administers the Million Dollar Bike Ride program funding multiple rare disease foundations including STXBP1. Functions as both a funding conduit and research infrastructure partner.
- Simons Foundation / SFARI: Major philanthropic funder of autism and neurodevelopmental disorder research; operates Simons Searchlight, which partners with STXBP1 Foundation for natural history data collection. Represents a much larger institutional counterpart with overlapping research priorities.
Market position
Strengths5 records
Weaknesses4 records
Competitive moat5 records
Key risks5 records
Key highlights7 records
Customer concentration
STXBP1 Foundation social profiles
Digital presenceSTXBP1 Foundation financial estimates
Financial estimateRevenue estimate
Valuation estimate
STXBP1 Foundation leadership team
Management profileNumber of profiles
Profiles2 records
STXBP1 Foundation funding detail
Funding detailFunding overview
Funding rounds
Investors
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STXBP1 Foundation M&A and investment
M&A and investmentM&A
Investments
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Frequently asked questions about STXBP1 Foundation
What does STXBP1 Foundation do?
STXBP1 Foundation is a 501(c)(3) nonprofit patient advocacy organization that operates as the central hub for the STXBP1-Related Disorders community. It funds academic and biotech research through Innovation Grants and the Million Dollar Bike Ride program, runs the STARR natural history study and associated patient registries, and provides educational resources, family support, and clinical trial navigation for patients affected by this rare genetic epilepsy (1 in 30,000 births). The foundation also leads advocacy efforts such as securing the ICD-10 code QA0.0141 and convening an annual Summit+ conference for researchers, clinicians, and families.
Is STXBP1 Foundation a public or private company?
STXBP1 Foundation is a private company. It is classified as nonprofit foundation owned and is currently operating.
When was STXBP1 Foundation founded?
STXBP1 Foundation was founded in 2017. It employs 1 to 10 people.
Where is STXBP1 Foundation based?
STXBP1 Foundation is headquartered in Philadelphia, United States, in the North America region.
How does STXBP1 Foundation make money?
Two revenue lines are on record. Donations and Fundraising is the primary driver. The others are patient Assistance Programs.
Who are STXBP1 Foundation's main competitors?
Direct peers on record are CACNA1A Foundation, Rett Syndrome Research Trust, Loulou Foundation (CDKL5 Deficiency Disorder), KCNQ2 Cure Alliance, Dravet Syndrome Foundation, Tuberous Sclerosis Alliance and Syngap Research Fund (SRF). Broad incumbents are CURE Epilepsy, Orphan Disease Center (University of Pennsylvania) and Simons Foundation / SFARI.
Does STXBP1 Foundation have an API?
No public API is recorded for STXBP1 Foundation.
What industry is STXBP1 Foundation in?
STXBP1 Foundation's product category is Patient Advocacy Nonprofit. Its primary akta.pro industry code is BPAGACAA, Disease-Specific Research & Support (e.g., Cancer, Diabetes, ALS), with a secondary code of BPAGAKAL, Health & Medical Research Grantmaking Foundations. Its NAICS code is 813212 and its SIC code is 8000.