CACNA1A Foundation
CACNA1A Foundation is a parent-led 501(c)(3) non-profit that funds research, runs a longitudinal Natural History Study and RARE-X patient data program, and supports a global community of patients and families affected by CACNA1A-related genetic disorders.
- Company typePrivate
- Founded2019
- HeadquartersNorwalk, United States
- Headcount1–10
- GTM typeB2C
- OfferingServices
What CACNA1A Foundation does
CACNA1A Foundation is a parent-led 501(c)(3) non-profit organization, headquartered in Norwalk, Connecticut, that funds research, builds community, and advocates for patients and families affected by CACNA1A-related genetic disorders, which include ataxia, epilepsy, hemiplegic migraines, developmental delays, and cerebellar atrophy. The foundation was founded in 2019 and operates as an all-volunteer organization with no paid staff, led by President and Co-Founder Lisa Manaster with a Science Engagement Director (Dr. Pangkong Fox) and a Board of Directors supported by a Scientific & Medical Advisory Board and a Global Ambassadors program.
Its core operational assets are research-enabling platforms rather than commercial products: the CACNA1A Natural History Study, a retrospective and prospective longitudinal patient registry operated in partnership with the Chung Lab at Columbia University / Boston Children's Hospital using REDCap; and the RARE-X Data Collection Program, a patient-owned structured data sharing platform powered by the Broad Institute of MIT and Harvard. The foundation also convenes an annual research roundtable at NINDS/NIH (attendance growing from 37 experts in 2022 to 70 in 2025), runs an annual Family & Scientific Conference, and publishes the "Clarify CACNA1A" blog and monthly newsletter.
The foundation generates no commercial revenue. It is funded through individual donations and community fundraisers (including an annual Run/Walk/Roll), and through grants such as the 3-year Rare As One capacity-building grant awarded by the Chan Zuckerberg Initiative in 2021. In 2020 it raised approximately $200,000 and set a $300,000 goal for 2021. Recent milestones include the first CACNA1A Disease Concept Model Study (American Epilepsy Society, 2024), a new ICD-10 code QA0.0102 for CACNA1A-related Neurodevelopmental Disorder effective October 1, 2025, the launch of the first CACNA1A multidisciplinary clinic in 2025, and an FDA Patient Listening Session in January 2026. The foundation holds a Charity Navigator 4-star rating and a Candid/GuideStar Platinum Seal of Transparency.
CACNA1A Foundation firmographics
Firmographics- Name
- CACNA1A Foundation
- Legal name
- CACNA1A Foundation, Inc.
- Website
- https://cacna1a.org
- Company type
- Private
- Founded year
- 2019
- Operating status
- Operating
- Headcount range
- 1–10 employees
- Short description
- CACNA1A Foundation is a parent-led 501(c)(3) non-profit that funds research, runs a longitudinal Natural History Study and RARE-X patient data program, and supports a global community of patients and families affected by CACNA1A-related genetic disorders.
- Ownership category
- akta.pro rank
CACNA1A Foundation industry classification
Industry- Product category
- Rare Disease Patient Advocacy
- NAICS
- Voluntary Health Organizations (813212), Grantmaking and Giving Services (81321)
- SIC
- Services-Misc Health & Allied Services, Nec (8090)
- akta.pro primary industry
- Health & Medical Research Grantmaking Foundations (BPAGAKAL)
- akta.pro secondary industries
- Health Research Funding Agencies (Public/Quasi-Public) (HLAJALAB), Community Health & Prevention Program Funding (HLAJALAF)
Keywords
Where CACNA1A Foundation is headquartered
LocationHeadquarters
- HQ city
- Norwalk
- HQ country
- United States
- HQ region
- North America
Offices1 record
Markets served
CACNA1A Foundation business model
Business model- GTM type
- B2C
- Offering type
- Services
- Cost components
- Personnel, Operations, Marketing or Sales, Technology or R&D, Others
Revenue model
- Donations and Fundraising: The foundation relies on charitable donations from individuals, families, and supporters. In 2020, the foundation raised nearly $200,000 and set a goal of $300,000 for 2021. Fundraising efforts include community events such as the CACNA1A Run/Walk/Roll.
- Research and Operating Grants: The foundation receives grants including a 3-year Rare As One (RAO) grant from the Chan Zuckerberg Initiative (CZI) received in 2021 to build organizational capacity. Operating grants are also sought to support foundation activities.
Go-to-market motion1 record
Distribution channels3 records
Marketing channels9 records
CACNA1A Foundation product offering
Product offeringCore offering
CACNA1A Foundation is a parent-led 501(c)(3) non-profit that funds life-changing research and provides free educational, community, and research-engagement services for individuals and families affected by CACNA1A-related disorders. Its core offerings include the CACNA1A Natural History Study (with the Chung Lab at Columbia University), the RARE-X Data Collection Program, a Research Grant Program, an annual Family & Scientific Conference, a webinar series, a contact registry, and an extensive library of clinician and family resources.
Product overview
CACNA1A Foundation is a parent-led 501(c)(3) non-profit organization dedicated to creating awareness and finding a cure for CACNA1A genetic variants. The foundation does not offer a commercial product or software platform. Its primary offerings consist of educational resources, research coordination services, and community support programs for individuals and families affected by CACNA1A-related disorders. Key service offerings include: a comprehensive website providing information about CACNA1A-related disorders; a Natural History Study conducted in partnership with the Chung Lab at Columbia University to collect patient data for research; the RARE-X Data Collection Program for patient-owned data sharing; an annual Family & Scientific Conference; a blog (Clarify CACNA1A) with research updates and community stories; educational webinars; clinician and patient resources; and a contact registry for community engagement. The foundation also coordinates research grants, maintains a global research network, and advocates for the CACNA1A community.
Differentiator
Problem solved
Functional benefit
Products and services
- CACNA1A Natural History Study
- RARE-X Data Collection Program (CACNA1A)
- CACNA1A Research Grant Program
- CACNA1A Family & Scientific Conference
- CACNA1A Contact Registry
- CACNA1A Educational Webinar Series
- CACNA1A Research Roundtable
- CACNA1A Disease Concept Model Study
Quantifiable outcome
- New ICD-10 code QA0.0102 obtained for CACNA1A-related Neurodevelopmental Disorder effective October 2025
- +3 more outcomes
Companies that use CACNA1A Foundation
Customer profileNamed customers1 record
Segments1 record
Ideal customer profiles2 records
CACNA1A Foundation technology and API
TechnologyTechnology focussed No
API detail
- Has API
- No
- API docs
- API detail
Core technology
AI maturity
App detail
Feature1 record
CACNA1A Foundation partnerships and signals
Strategic signalPartnerships
Eleven partnerships are on record, tiered core and minor.
- COMBINEDbraincoreCOMBINEDbrain is a non-profit consortium of 25 patient-advocacy foundations representing rare genetic neurodevelopmental disorders. The foundation joined as a member in April 2021 to pool efforts, studies and data, and accelerate clinical trial readiness. The consortium de-risks therapeutic development by grouping disorders with similar symptoms.
- RARE-XcoreRARE-X is a 501(c)(3) nonprofit data-sharing platform powered by the Broad Institute of MIT and Harvard. The foundation partnered with RARE-X to build a Data Collection Program for the CACNA1A community to accelerate discovery of treatments through patient-owned, structured data collection.
- National Institute of Neurological Disorders and Stroke (NINDS/NIH)coreNINDS, part of the NIH, is the largest funding body for scientific research in the US. The foundation hosts annual Research Roundtables at NINDS facilities, with NINDS grant program managers participating in working groups focused on natural history, variant classification, and preclinical to clinical pathways.
- Chung Lab at Columbia University / Boston Children's HospitalcoreDr. Wendy Chung leads the CACNA1A Natural History Study. In July 2023, Dr. Chung joined Boston Children's Hospital as Chief of Pediatrics while maintaining her role leading clinical research at the Simons Foundation. She directs NIH-funded research programs and has authored over 400 peer-reviewed papers. The foundation partnered with her lab to conduct comprehensive natural history data collection.
- Danny Did FoundationminorReference resource for seizure monitoring devices. The Danny Did Foundation provides grants for seizure monitoring devices, which are recommended safety equipment for CACNA1A patients with epilepsy.
- NAPA CenterminorNAPA Center is a pediatric therapy center with five US locations (L.A., Denver, Boston, Austin, Chicago) and two in Australia. They offer free online resources and tips for feeding therapies relevant to CACNA1A families dealing with feeding difficulties due to autism, sensory processing deficits, and motor impairments.
- Disability Rights Legal CenterminorDRLC provides litigation support and advocacy resources for CACNA1A families navigating disability rights issues including school accommodations, healthcare access, and insurance matters. Christopher Knauf serves as Director of Litigation contributing educational content.
- Simons Foundation / Simons SearchlightminorDr. Wendy Chung serves as Director of Clinical Research at the Simons Foundation, which runs Simons Searchlight study for neurogenetic conditions. Simons Searchlight serves as a model for data collection approaches.
- Children's Hospital of Philadelphia (CHOP)minorDr. Ingo Helbig from CHOP participated in the FDA Patient Listening Session in January 2026. CHOP researchers collaborate on research initiatives and provide clinical expertise.
- COMBINEDBrain / Dr. Pangkong FoxcoreDr. Pangkong Fox serves as Science Engagement Director for the foundation and led the CACNA1A Disease Concept Model Study with COMBINEDBrain, identifying key symptoms impacting quality of life.
- Broad Institute of MIT and HarvardcoreThe Broad Institute powers the RARE-X data collection platform used by the foundation. It supports patients in data collection and structuring, clinicians in accelerating diagnosis, and researchers with data needed for breakthrough treatments.
Scale indicators9 records
Recent moves6 records
Expansion highlights5 records
CACNA1A Foundation competitors and assessment
Company assessmentDirect peers
- RARE-X: 501(c)(3) data-sharing platform powered by the Broad Institute that helps rare disease communities (including CACNA1A) collect, structure, and share patient-owned data. A direct operational and strategic partner of the foundation and a model peer for patient-driven research infrastructure.
- STXBP1 Foundation: Parent-led 501(c)(3) focused on STXBP1-related disorders, a related rare genetic neurodevelopmental condition. Operates a similar model: natural history study, family registry, research grants, and clinician education. COMBINEDbrain co-member with overlapping scientific network.
- SYNGAP1 Foundation: Patient-advocacy foundation for SYNGAP1-related neurodevelopmental disorder. Similar parent-led, all-volunteer DNA-driven model with research grants, registry, and FDA engagement; overlapping scientific advisory networks and COMBINEDbrain consortium participation.
- SCN2A Foundation: Family-driven foundation supporting research and awareness for SCN2A-related disorders, another ion-channel mutation with overlapping ataxia/epilepsy phenotypes. Operates with a similar small-staff, parent-led, research-grant-funding model.
- COMBINEDbrain: Non-profit consortium of 25 patient-advocacy foundations for rare genetic neurodevelopmental disorders. CACNA1A Foundation is a member; the organizations share clinical-trial readiness infrastructure, natural history approaches, and Disease Concept Model studies for overlapping indications.
- Dravet Syndrome Foundation: Patient-advocacy foundation for Dravet syndrome (a rare genetic epilepsy). Runs research grant programs, family conferences, and FDA engagement. A more mature peer showing the path from parent-led foundation to clinical-trial pipeline for a CACNA1A-overlapping channelopathy.
Broad incumbents
- National Organization for Rare Disorders (NORD): Largest US umbrella organization for rare disease patient advocacy. Does not specialize in CACNA1A but provides policy advocacy, research grants, and registry infrastructure that smaller single-disease foundations leverage; a natural policy/umbrella peer.
- EveryLife Foundation for Rare Diseases: DC-based rare disease policy and advocacy nonprofit focused on federal funding, FDA engagement, and newborn screening. Operates one level above single-disease foundations, including CACNA1A, shaping the regulatory environment they depend on.
Emerging players
- Simons Searchlight: Research program of the Simons Foundation collecting phenotypic and genetic data for rare neurogenetic conditions (including some overlapping channelopathies). Functions as both a partner and a competing/complementary registry model for CACNA1A natural history efforts.
Others
- Chan Zuckerberg Initiative — Rare As One Network: CZI's Rare As One program funds a network of rare disease patient-led foundations (including CACNA1A Foundation) to build organizational capacity and accelerate research. Less a peer and more the foundation's primary philanthropic sponsor and peer cohort network.
Market position
Strengths5 records
Weaknesses4 records
Competitive moat5 records
Key risks5 records
Key highlights7 records
Customer concentration
CACNA1A Foundation social profiles
Digital presenceCACNA1A Foundation financial estimates
Financial estimateRevenue estimate
Valuation estimate
CACNA1A Foundation leadership team
Management profileNumber of profiles
Profiles3 records
CACNA1A Foundation funding detail
Funding detailFunding overview
Funding rounds
Investors
Funding detail is available on the Subscription and Enterprise plan.Contact sales →
CACNA1A Foundation M&A and investment
M&A and investmentM&A
Investments
M&A and investment is available on the Subscription and Enterprise plan.Contact sales →
Frequently asked questions about CACNA1A Foundation
What does CACNA1A Foundation do?
CACNA1A Foundation is a parent-led 501(c)(3) non-profit that funds life-changing research and provides free educational, community, and research-engagement services for individuals and families affected by CACNA1A-related disorders. Its core offerings include the CACNA1A Natural History Study (with the Chung Lab at Columbia University), the RARE-X Data Collection Program, a Research Grant Program, an annual Family & Scientific Conference, a webinar series, a contact registry, and an extensive library of clinician and family resources.
Is CACNA1A Foundation a public or private company?
CACNA1A Foundation is a private company. It is classified as nonprofit foundation owned and is currently operating.
When was CACNA1A Foundation founded?
CACNA1A Foundation was founded in 2019. It employs 1 to 10 people.
Where is CACNA1A Foundation based?
CACNA1A Foundation is headquartered in Norwalk, United States, in the North America region.
How does CACNA1A Foundation make money?
Two revenue lines are on record. Donations and Fundraising is the primary driver. The others are research and Operating Grants.
Who are CACNA1A Foundation's main competitors?
Direct peers on record are RARE-X, STXBP1 Foundation, SYNGAP1 Foundation, SCN2A Foundation, COMBINEDbrain and Dravet Syndrome Foundation. Broad incumbents are National Organization for Rare Disorders (NORD) and EveryLife Foundation for Rare Diseases. Simons Searchlight is listed as an emerging player. Chan Zuckerberg Initiative — Rare As One Network is listed as an others.
Does CACNA1A Foundation have an API?
No public API is recorded for CACNA1A Foundation.
What industry is CACNA1A Foundation in?
CACNA1A Foundation's product category is Rare Disease Patient Advocacy. Its primary akta.pro industry code is BPAGAKAL, Health & Medical Research Grantmaking Foundations, with a secondary code of HLAJALAB, Health Research Funding Agencies (Public/Quasi-Public). Its NAICS code is 813212 and its SIC code is 8090.