What Cystinosis Research Foundation does

Cystinosis Research Foundation (CRF) is a 501(c)(3) nonprofit charitable organization founded in 2003 in Irvine, California, by Nancy and Jeff Stack following their daughter Natalie's wish to have cystinosis "go away forever." The foundation's core function is to fund and coordinate bench, clinical, and translational research toward better treatments and a cure for cystinosis, a rare genetic lysosomal storage disorder that damages the kidneys, eyes, thyroid, muscles, liver, and brain and historically progressed to kidney failure by ages 8–10. Since inception, CRF has committed more than $73 million across 255 multi-year research studies and fellowships in 13 countries, yielding 122 peer-reviewed publications and contributing to two U.S. FDA approvals: Procysbi (April 30, 2013) and the first stem cell and gene therapy IND for cystinosis (November 2018).

CRF's product surface is non-commercial and research-oriented. Core assets include a bi-annual Research Grant and Fellowship Program (~$2M per cycle) overseen by a Scientific Review Board, the Cure Cystinosis International Registry (CCIR) built in partnership with CoRDS as the only international cystinosis patient registry, the biannual Cystinosis Magazine, the annual Natalie's Wish fundraising campaign, and convening mechanisms such as the International Cystinosis Research Symposium and Day of Hope. CRF's funded research portfolio spans stem cell and gene therapy (autologous hematopoietic stem cell gene therapy with a lentiviral CTNS insert, originally developed by Dr. Stéphanie Cherqui at UC San Diego since 2007 with $6.1M+ from CRF), delayed-release cysteamine pharmacology, controlled-release cysteamine eye drops via thermoresponsive hydrogel microspheres, iPS-cell platforms, mRNA therapy, SGLT2 inhibitors, and ketogenic diet studies. The CYStem program originally seeded by CRF was acquired by Novartis in October 2023 and expanded to pediatric ages 2–5 in April 2025, with Phase I/II results published in the New England Journal of Medicine in February 2026.

CRF's revenue model is donations-based: individual giving (one-time, recurring, anonymous), planned/legacy giving (wills, trusts, charitable gift annuities, life-insurance and retirement assets), donor-advised funds, family-organized grassroots events (golf tournaments, winery events, lemonade stands, bake sales), and corporate sponsorships including partnerships with Novartis. A 100%-to-research model is enforced by underwriting all operational costs with separately raised funds. Geographic reach is bilateral in fundraising (U.S. via direct channels, Canada via the Aqueduct Foundation partnership since 2016 with $1,381,762 routed to date) and global in research outputs spanning 13 countries. Primary beneficiaries are cystinosis patients and families, with secondary beneficiaries including the global scientific investigator community, medical professionals, and the broader rare-disease donor base.

Name

Cystinosis Research Foundation

Legal name

Cystinosis Research Foundation

Website

https://cystinosisresearch.org

Company type

Private

Founded year

2003

Operating status

Operating

Headcount range

1–10 employees

Short description

Cystinosis Research Foundation is a 501(c)(3) nonprofit founded in 2003 in Irvine, California, that funds and coordinates bench, clinical, and translational cystinosis research globally. It has committed over $73 million across 255 studies in 13 countries and operates the only international cystinosis patient registry.

Ownership category

akta.pro rank

Product category

Rare Disease Research Funding

NAICS

Voluntary Health Organizations (813212), Grantmaking Foundations (813211)

SIC

Services-Social Services (8300)

akta.pro primary industry

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

akta.pro secondary industries

Research & Science Grantmaking Foundations (BPAGAKAI), Health & Medical Research Grantmaking Foundations (BPAGAKAL)

Keywords

• Rare disease research funding
• Cystinosis research grants
• Patient registry services
• Nonprofit medical foundation
• Clinical trial coordination

Headquarters

HQ city

Irvine

HQ country

United States

HQ region

North America

Offices1 record

Markets served

GTM type

B2C

Offering type

Services

Cost components

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

Revenue model

1. Donations - Individual: Individual donations from patients, families, friends, and general public made through website, mail, or recurring gift options.
2. Planned Giving: Legacy gifts including wills, trusts, charitable gift annuities, life insurance, retirement plan assets, real estate, and memorial donations.
3. Donor-Advised Funds: Gifts from donor-advised funds for Canadian and US donors.
4. Family Fundraising Events: Grassroots fundraising events organized by cystinosis families including lemonade stands, bake sales, golf tournaments, winery events, and community gatherings.
5. Corporate Partnerships: Corporate sponsorships for events and research funding partnerships with pharmaceutical companies like Novartis.

Pricing tiers

Go-to-market motion2 records

Distribution channels5 records

Marketing channels11 records

Core offering

The Cystinosis Research Foundation funds and coordinates cystinosis research worldwide by issuing bi-annual research grants and fellowships, maintaining the Cure Cystinosis International Registry (CCIR) patient database, and convening researchers at its biennial International Cystinosis Research Symposium. It also runs community-facing programs including the annual Natalie's Wish fundraising campaign, the Cystinosis Magazine, and family stories to connect and support patients and families affected by cystinosis. Since inception it has committed over $73 million to 255 studies in 13 countries.

Product overview

The Cystinosis Research Foundation is a nonprofit organization whose core offering is the funding and coordination of cystinosis research rather than a commercial product. Its primary service offerings include the Cure Cystinosis International Registry (CCIR), a global patient registry built in partnership with CoRDS; the Cystinosis Magazine published bi-annually; the annual Natalie's Wish fundraising campaign; and a bi-annual Research Grant and Fellowship Program that has funded 255 studies in 13 countries totaling over $73 million since 2003. The Foundation also maintains a news portal and family stories platform to engage the cystinosis community.

Differentiator

Problem solved

Functional benefit

Products and services

• Cure Cystinosis International Registry (CCIR) The only international cystinosis patient registry in the world, created in partnership with CoRDS. It is an online confidential database that collects standardized diagnostic and treatment information from cystinosis patients globally via a 135-question questionnaire, enabling approved researchers to access real-world data for clinical trials and treatment development.
• CRF Research Grant and Fellowship Program Bi-annual global call for cystinosis research proposals (spring and fall), reviewed and recommended by the CRF Scientific Review Board. Approximately $2 million available per funding cycle. Supports bench, clinical, and translational research including postdoctoral fellowships. Since 2003 it has funded 255 multi-year studies in 13 countries totaling over $73 million.

Quantifiable outcome

• 255 multi-year research studies funded in 13 countries
• +3 more outcomes

Named customers7 records

Segments5 records

Ideal customer profiles4 records

Technology focussed No

API detail

Has API

No

API docs

API detail

Core technology

AI maturity

App detail

Feature4 records

Partnerships

Ten partnerships are on record, tiered core and supporting.

• NovartiscoreStrategic or Co-development Partner · 1 October 2023Novartis acquired the cystinosis stem cell program from Aruvobio in October 2023 and is now conducting Phase I/II clinical trials (CYStem). Novartis announced launch of pediatric trial (ages 2-5) in April 2025. CRF was the first and sole funder of Dr. Cherqui's research that led to this acquisition.
• Aqueduct FoundationcoreChannel Partner/ Reseller/ Distributor · 1 January 2016Aqueduct Foundation administers the Canadian Cystinosis Research Foundation fund, enabling efficient Canadian donation processing with charitable tax receipts through dropdown menu selection.
• Morgan DiLeo, PhD (University of Pittsburgh)supportingStrategic or Co-development Partner · 1 January 2016CRF has funded Dr. DiLeo's corneal cystinosis research since 2016. CRF entered into an Option Agreement with University of Pittsburgh to potentially acquire exclusive license to controlled-release cysteamine eye drop technology.
• University of California, San Diego (Dr. Stephanie Cherqui)coreStrategic or Co-development Partner · 1 January 2007CRF began funding Dr. Cherqui's stem cell and gene therapy research in 2007. CRF provided over $6.1 million in grants and was the first and sole funder until FDA clinical trial approval. Research has since been leveraged by CIRM and NIH funding.
• CoRDS (Coordination of Rare Diseases at Sanford)coreStrategic or Co-development PartnerCRF partnered with CoRDS to create the Cure Cystinosis International Registry (CCIR), the only international cystinosis patient registry. CoRDS provides the platform infrastructure and enables researchers worldwide to access standardized patient data for accelerating research and clinical trials.
• Canada HelpssupportingChannel Partner/ Reseller/ DistributorPartnership for Canadian donors to access charitable tax receipts when donating to cystinosis research through Aqueduct Foundation.
• UC San Diego / Rady Children's HospitalcoreStrategic or Co-development PartnerPrimary clinical trial site for Novartis CYStem Phase I/II trial (cohort 0 and cohort 1). Contact: Caitlin Carter (858) 966-4853.
• Stanford University / Stanford Children's HealthcoreStrategic or Co-development PartnerClinical trial site for Novartis CYStem Phase I/II trial (cohort 0 and cohort 1). Principal Investigator: Alice Bertaina, MD, PhD.
• Baylor College of Medicine / Texas Children's HospitalsupportingStrategic or Co-development PartnerClinical trial site for Novartis CYStem Phase I/II trial (cohort 0 only).
• Emory University / Children's Healthcare of AtlantasupportingStrategic or Co-development PartnerClinical trial site for Novartis CYStem Phase I/II trial (cohort 0 only).

Scale indicators9 records

Recent moves6 records

Expansion highlights5 records

Broad incumbents

• Cystic Fibrosis Foundation: The Cystic Fibrosis Foundation is the largest rare-disease research foundation in the US, funding bench, clinical, and translational research with a similar model of seed-funding academic labs that transition to pharma (e.g., Vertex's CFTR modulators). Directly comparable to CRF as a disease-specific health research foundation with a track record of enabling FDA-approved therapies.
• National Organization for Rare Disorders (NORD): NORD is a 501(c)(3) umbrella organization representing the rare-disease community, including ~300 patient organizations. Comparable to CRF in serving as a grantmaking and advocacy entity for rare-disease research, but with a broader, multi-disease scope rather than a single-disease focus.
• EveryLife Foundation for Rare Diseases: EveryLife Foundation advocates for rare-disease policy and research funding at the federal level, complementing disease-specific foundations like CRF. Comparable in mission alignment (advancing rare-disease therapeutics) but distinct in operating as an advocacy and policy organization rather than a direct research funder.
• Muscular Dystrophy Association: MDA is one of the largest US health nonprofits funding neuromuscular disease research, with a multi-disease portfolio. Comparable to CRF as a major rare-disease research grantmaking organization with an established patient registry and clinical trial infrastructure.
• National Kidney Foundation: NKF funds kidney disease research broadly, including nephropathic forms of cystinosis which cause kidney failure in untreated children. Comparable to CRF as a kidney-focused research funder, though operating at much larger scale with a multi-disease portfolio.

Direct peers

• Children's Tumor Foundation: Children's Tumor Foundation funds research into neurofibromatosis (NF), a rare genetic disorder, using a model very similar to CRF: bi-annual research grants, fellowship programs, patient registries, and biennial scientific symposiums. Directly comparable as a single-disease rare-disease research foundation.
• Parent Project Muscular Dystrophy: Parent Project Muscular Dystrophy is a patient-driven nonprofit funding Duchenne muscular dystrophy research with a model emphasizing seed funding for academic labs that transition to pharma-sponsored trials. Closely comparable to CRF in scale, mission, and patient-led fundraising approach.
• Foundation Fighting Blindness: Foundation Fighting Blindness funds retinal degenerative disease research, including corneal cystinosis which causes vision loss. Directly comparable to CRF in operating as a patient-driven rare-disease foundation funding bench, translational, and clinical research, with similar grant cycles and symposium cadence.
• Tuberous Sclerosis Alliance: Tuberous Sclerosis Alliance is a single-disease rare-disease research foundation that funds research and operates a patient registry. Comparable to CRF in mission focus, patient-led governance, and direct research grantmaking model.
• Acid Maltase Deficiency Association (AMDA): AMDA is a small, patient-driven nonprofit funding research into Pompe disease, another rare lysosomal storage disorder. Highly comparable to CRF in scale, single-disease focus, and lysosomal storage disorder mission space, though smaller in fundraising scale.

Market position

Strengths5 records

Weaknesses5 records

Competitive moat5 records

Key risks5 records

Key highlights7 records

Customer concentration

• YouTubeyoutube.com/user/Natalieswish/videos
• Facebookfacebook.com/info
• Instagraminstagram.com/cystinosisresearchfoundation
• Xx.com/NataliesWish
• LinkedInlinkedin.com/company/cystinosis-research-foundation

Compliance4 records

Revenue estimate

Valuation estimate

Number of profiles

Profiles3 records

Funding overview

Funding rounds2 records

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 Cystinosis Research Foundation