The CASK Gene Foundation

Name

The CASK Gene Foundation

Legal name

CASK Gene Foundation, Inc.

Website

https://caskgene.org

Company type

Private

Founded year

2019

Operating status

Operating

Headcount range

1–10 employees

Ownership category

akta.pro rank

Product category

Rare Disease Patient Advocacy and Genetic Disorder Foundation

NAICS

Voluntary Health Organizations (813212), Scientific Research and Development Services (5417), Individual and Family Services (6241)

SIC

Services-Membership Organizations (8600), Services-Social Services (8300), Services-Educational Services (8200)

akta.pro primary industry

Disease-Specific Research & Support (e.g., Cancer, Diabetes, ALS) (BPAGACAA)

Keywords

• Rare disease foundation
• Patient advocacy services
• Genetic disorder support
• Clinical research registry
• Nonprofit family support

Headquarters

HQ city

Orem

HQ country

United States

HQ region

North America

Offices1 record

Markets served

GTM type

B2C

Offering type

Services

Cost components

Personnel, Technology or R&D, Marketing or Sales, Operations

Revenue model

1. Donations: Tax-deductible donations from individuals, families, and supporters. Donations can be made directly on the website, through fundraising campaigns, or during CGF-sponsored fundraising events. Donors can designate their donation to specific program areas.
2. Campaign 4CASK Fundraising: The foundation's primary fundraising campaign allows registered CASK families to create their own fundraising pages and set priorities for fund allocation across program areas (General Fund, Family Support, Education & Awareness, Research & Collaboration). Text-to-give capability via 4CASK keyword.

Go-to-market motion1 record

Distribution channels6 records

Marketing channels9 records

Core offering

The CASK Gene Foundation delivers education, family support, and research collaboration services for individuals impacted by CASK gene disorders. Its core deliverable is the IRB-approved CASK Registry, which combines the ROLL CALL demographic study with the CASK Gene Matrix patient portal for collecting natural history data, biological samples, and clinical information to accelerate rare disease research. The foundation also runs a Clinical Research ID (CRID) program, family scholarships, virtual peer support groups, and awareness campaigns such as CASK Gene Awareness Day and Campaign 4CASK.

Product overview

The CASK Gene Foundation operates a patient-centered ecosystem built around the CASK Registry as its core product. The registry consists of two integrated components: ROLL CALL for population counting and basic demographics, and the CASK Gene Matrix patient portal powered by Across Matrix for comprehensive health data collection and research participation. Supporting services include the Clinical Research ID (CRID) which enables patients to create universal IDs for data sharing, a Contact Registry for community engagement, Family Support Services including virtual meetups and financial scholarships, and awareness programs like Campaign 4CASK and the annual CASK Gene Awareness Day (July 15). The organization functions as a 100% volunteer-led 501(c)(3) non-profit focused on education, family support, and research collaboration for CASK gene disorders.

Differentiator

Problem solved

Functional benefit

Products and services

• CASK Registry An IRB-approved natural history study of CASK gene disorders resulting in an internet-accessible patient, caregiver, and clinician-reported database owned and operated by the CASK community. It consists of two parts: ROLL CALL (counting CASK cases and providing high-level demographic statistics) and the CASK Gene Matrix (comprehensive patient portal for research participation). Intended for families affected by CASK gene disorders, clinicians, and researchers.
• CASK Gene Matrix A patient portal powered by Across Matrix that centralizes loved one's information in an environment dedicated to helping those with CASK-related disorders. It allows families to participate in 4+ active research studies, respond to surveys, track symptoms, upload medical files, and access the CASK Gene Biorepository. Data may also be shared with COMBINEDBrain for study alongside 80+ other rare neurological disorders.
• Clinical Research ID (CRID) A service that empowers patients to take control of their own research data by creating a Universal Unique ID. Patients decide which researchers to share their data with, enabling researchers to reuse, merge, and share research data without exposing personally identifiable information. Free service that never sells or shares information.
• Contact Registry Registration system to receive updates about research, events, conferences, scholarships, and grants. Collects contact information and role descriptions for connecting with the CASK gene community. Available globally through the foundation website.
• Family Support Services Support services including Live Virtual CASK Meetup Groups held via Zoom and a private Parent and Caregiver Support Facebook Group limited to verified CASK family members. The foundation also administers the CASK Family Scholarships program providing financial assistance.
• CASK Family Scholarships Financial assistance program established in 2020 to help families affected by CASK gene disorders cover medical expenses, therapies (music therapy, feeding therapy, rehabilitation), equipment (vibration boards, Rezzimax), and other essential needs not covered by insurance. Funded year-round through the 4CASK campaign and sponsored by the annual Friends of Sophia Marie Golf Outing.
• Campaign 4CASK Fundraising campaign inspired by four pillars of action: Cope and Connect, Adapt and Aspire, Share and Serve, and Kick CASK. The greatest focus is on the Translational Research Program for CASK, providing researchers with validated health data and biological samples to expedite clinical trials. Includes peer-to-peer fundraising pages and text-to-give functionality.
• CASK Gene Awareness Day Annual awareness day celebrated on July 15 to raise public awareness about CASK Gene and its impact on patients and families. Includes event materials and graphics that can be adapted for personal use when paired with the CASK Gene Foundation logo and #KickingCASK hashtag.

Quantifiable outcome

• CASK Gene Foundation has established CASK Gene Awareness Day (July 15), creating annual global awareness events.
• +3 more outcomes

Named customers7 records

Segments3 records

Ideal customer profiles3 records

Technology focussed No

API detail

Has API

No

API docs

API detail

Core technology

AI maturity

App detail

Integration6 records

Feature4 records

Partnerships

Seven partnerships are on record, tiered core and secondary.

• COMBINEDBraincoreStrategic or Co-development PartnerCOMBINEDBrain is a non-profit organization devoted to speeding the path to clinical treatments for people with rare genetic neurological disorders by pooling efforts, studies, and data. Parents using the CASK Gene Matrix parent portal have the option of sharing their health data with their research team, so that CASK can be quickly studied alongside 80+ other rare neurological disorders.
• Citizen HealthcoreTechnology or IntegrationCitizen Health provides a service of gathering medical records on behalf of those who opt in to this service, and transcribes significant keywords from those records to add valuable insights to the CASK Registry and to their other research partners. This is a data collection partnership.
• Across MatrixcoreTechnology or IntegrationAcross Matrix powers the interactive CASK Gene Matrix patient portal data collection platform, where patients, parents, and clinicians can respond to surveys, track symptoms important to them, upload medical files, or participate in research studies including the CASK Gene Biorepository. This is a core infrastructure partnership for research data collection.
• Clinical Research ID (CRID)coreTechnology or IntegrationThe CRID service provides patients and families with a unique ID that empowers them to share and link their research data across studies without sharing personally identifiable information. The service is free and they never sell or share information. CASK Gene Foundation is affiliated with this patient-controlled data sharing initiative.
• GenomeConnectsecondaryStrategic or Co-development PartnerGenomeConnect is a data sharing partner that enables CASK registry participants to understand how data sharing can be helpful in the rare disease industry. Presented by Juliann Savatt at the 2023 CASK Gene Summit.
• CASK Gene BiorepositorycoreStrategic or Co-development PartnerThe CASK Gene Biorepository, accessible through the CASK Gene Matrix patient portal, enables patients to contribute biological samples for research. This initiative is supported by the foundation's research consortium members including Dr. Anna Pfalzer as Biorepository Investigator.
• Friends of Sophia Marie Golf OutingsecondaryGTM or Marketing PartnerA generous sponsorship from the annual Friends of Sophia Marie Golf Outing enables CASK Gene Foundation to extend the Family Scholarship program to more families worldwide. This is a fundraising partnership supporting the family support program.

Scale indicators3 records

Recent moves6 records

Expansion highlights6 records

Broad incumbents

• National Organization for Rare Disorders (NORD): NORD is the leading umbrella advocacy organization for all rare diseases in the US, providing education, research support, and policy advocacy. It is comparable as a higher-level voluntary health organization serving the same CASK families and operating patient registries, but covers 7,000+ disorders rather than specializing in one.
• EveryLife Foundation for Rare Diseases: A 501(c)(3) nonprofit public policy advocacy organization dedicated to advancing rare disease therapeutics and diagnosis. Comparable as a rare-disease voluntary health organization engaging on research policy and patient access, but focused on policy rather than operating a single-disease patient registry.
• Genetic Alliance: A nonprofit health advocacy organization supporting individuals and families affected by genetic conditions across all disorders. Comparable as a broader platform serving the same family demographic and providing educational and research resources, but operating at the genetic-condition umbrella level rather than disease-specific.

Direct peers

• COMBINEDBrain: COMBINEDBrain is a non-profit that pools efforts, studies, and data across 80+ rare genetic neurological disorders — directly aligned with CASK Gene Foundation's mission and an active strategic partner. It is highly comparable in disease focus, research model, and patient registry philosophy, and competes for similar research attention and donor dollars in the same patient families.
• Rett Syndrome Research Trust: A disease-focused nonprofit dedicated to accelerating treatments for Rett syndrome, a rare genetic neurological disorder. Comparable in mission (translational research acceleration), patient registry development, and rare disease neuroscience research focus, though with more developed research infrastructure.
• Angelman Syndrome Foundation: A larger disease-specific voluntary health organization serving the Angelman syndrome community. Comparable in disease-specific focus, patient registry operations, research funding programs, and family support services, though operating at greater scale than CASK Gene Foundation.
• Pitt Hopkins Research Foundation: A disease-specific foundation for Pitt-Hopkins syndrome, a rare genetic disorder. Operates an IRB-approved patient registry, funds research, and provides family support — directly parallel to CASK Gene Foundation's structure, programs, and target population (ultra-rare genetic disorder families).
• National Fragile X Foundation: A disease-specific voluntary health organization supporting families and research for Fragile X syndrome, a rare genetic neurological disorder. Comparable in family support services, research funding, registry operations, and educational resource provision, though serving a larger patient community than CASK.
• FOXG1 Research Foundation: A parent-led foundation dedicated to FOXG1 syndrome, another ultra-rare genetic neurological disorder affecting children. Highly comparable as a small, founder-led voluntary health organization operating a patient registry, funding translational research, and providing family scholarships and peer support for a similarly-sized rare disease community.
• Phelan-McDermid Syndrome Foundation: A disease-specific voluntary health organization supporting families affected by Phelan-McDermid Syndrome, another ultra-rare genetic neurodevelopmental disorder. Comparable in scale (small global patient population), structure (501(c)(3) nonprofit), and offerings (family registry, family support, research collaboration).

Market position

Strengths5 records

Weaknesses5 records

Competitive moat4 records

Key risks6 records

Key highlights7 records

Customer concentration

• Facebookfacebook.com/groups/caskgenefoundationfamilies
• Xx.com/caskgene
• LinkedInlinkedin.com/company/caskgene

Compliance5 records

Revenue estimate

Valuation estimate

Number of profiles

Profiles13 records

Funding overview

Funding rounds

Investors

Funding detail is available on the Subscription and Enterprise plan.Contact sales →

M&A

Investments

M&A and investment is available on the Subscription and Enterprise plan.Contact sales →

Frequently asked questions about The CASK Gene Foundation