Cystinosis Research Foundation
Programs and results
What we aim to solve
Cystinosis - is an extremely rare (striking an estimated 2,000 people worldwide) metabolic disease in which the amino acid cystine gets into the cells, but has no transporter out. Because of the defect in transportation, the cell crystallizes causing early cell death. Cystinosis slowly destroys the organs in the body including the kidneys, liver, eyes, muscles, and brain. With such a rare disease affecting such a small population, money for cystinosis research is scarce to nonexistent. The Cystinosis Research Foundation's mission is to support bench, clinical and translational cystinosis research to find better treatments and a cure for cystinosis.
Our programs
What are the organization's current programs, how do they measure success, and who do the programs serve?
CRF International Cystinosis Research Symposium - Building our Research Community
CRF’s International Research Symposium is held every two years and is only open to invited researchers and scientists. Approximately 65 cystinosis experts from leading international universities and research institutions gather to share their research data and to discuss cutting edge research ideas in an effort to accelerate research. The symposium is known for the openness of the attendees, and for their willingness to work together and form collaborations. The symposium has created a synergistic research community working in partnership with CRF.
Progress for Improved Treatment - Research
CRF has an aggressive and strategic research agenda. CRF issues grants for bench, clinical and translational research studies bi-annually in an effort to accelerate the research process and ensure that cystinosis research is ongoing and focused on novel treatments and a cure. CRF has issued 220 multi-year research grants in 12 countries and those researchers have published over 103 articles in prestigious science journals. As a result of donor support, we have funded researchers whose work has exponentially increased the breadth and knowledge about cystinosis and as a result of that knowledge, new discoveries have been achieved.
Progress in our Quest for the Cure
CRF research grants have resulted in two FDA approvals. CRF awarded several grants to improve the treatment of cystinosis and those research studies resulted in the 2013 FDA approval of a new medication that improved the quality of life for our patient community. In 2006, CRF awarded its first grant to Dr. Stephanie Cherqui at UC San Diego that was focused on stem cell therapy as a possible cure for cystinosis. In December 2018, the FDA approved the first stem cell and gene therapy clinical trial for cystinosis based on Dr. Cherqui’s work. We believe that the stem cell treatment will be a cure for cystinosis.
Where we work
External reviews

Our results
How does this organization measure their results? It's a hard question but an important one.
Number of research studies funded
This metric is no longer tracked.Totals By Year
Population(s) Served
Children and youth, Adults
Related Program
Progress for Improved Treatment - Research
Type of Metric
Context - describing the issue we work on
Direction of Success
Increasing
Context Notes
The Cystinosis Research Foundation was formed in 2003, since that time CRF has funded 213 multi-year cystinosis research grants in 12 countries around the globe.
Our Sustainable Development Goals
Learn more about Sustainable Development Goals.
Goals & Strategy
Learn about the organization's key goals, strategies, capabilities, and progress.
Charting impact
Four powerful questions that require reflection about what really matters - results.
What is the organization aiming to accomplish?
Through our aggressively funded research agenda, the Cystinosis Research Foundation issues grants for bench and clinical research studies bi-annually in order to accelerate research progress and ensure that cystinosis research is ongoing and focused on novel treatments and a cure. The Cystinosis Research Foundation is dedicated to educating the public and the medical community about cystinosis to ensure early diagnosis and proper treatment. CRF is the largest private fund provider of cystinosis research grants in the world. CRF has raised over $60 million for cystinosis research. It has awarded 220 multi-year grants and is funding researchers in 12 countries.
The CRF was established with the sole purpose of raising funds to find better treatments and a cure for cystinosis.
What are the organization's key strategies for making this happen?
Funding quality cystinosis research studies remains a priority and is an ongoing process. The CRF announces global calls for research proposals bi-annually in the spring and fall of each year. After review and recommendations by our Scientific Review Board, research grants are issued. In 2006, CRF established the first Cystinosis Research Fellowship Program designed to support scientists and new researchers who have an interest in cystinosis research.
In 2020, CRF funded more than $3 million for 23 cystinosis research studies covering muscle wasting, new drug discoveries, stem cell therapy, corneal cystinosis treatment, cognitive dysfunction, and molecular mechanisms in cystinosis.
What are the organization's capabilities for doing this?
Today, with the support of our cystinosis family partners, friends and community we have significantly changed the course of cystinosis research. Our funding efforts have allowed talented doctors and researchers in the area of cystinosis to initiate novel research studies and to advance their research efforts. in 2020, CRF funded $3,150,914 for 23 new research studies which included 14 new grants, 8 extension grants, and 1 equipment grant. CRF is the largest private fund provider of cystinosis research in the world.
What have they accomplished so far and what's next?
In 2018 the FDA approved a stem cell and gene therapy clinical trial for cystinosis. In October 2019, the first patient was transplanted, in June 2020 the second patient was transplanted and in November 2020, the third patient was transplanted. We are pleased to report that all three patients are doing well and are off cysteamine treatment. We are optimistic that this treatment will stop the progression of cystinosis or be the cure for cystinosis. We are thankful to Dr. Cherqui of the University of California, San Diego who has dedicated her career to finding a cure for cystinosis and leading the clinical trial.
CRF's dedication to educating the public and the medical community about cystinosis to ensure early diagnosis and proper treatment has made a tremendous difference by improving the quality of life for numerous patients and families around the world. One accomplishment began with the CRF funded research at the University of California, San Diego (UCSD) which resulted in the development of a slow-release form of the drug cysteamine. On April 30, 2013, the FDA approved the new drug Procysbi™. To date, the CRF has funded and committed more than $60 million to cystinosis research and has awarded 204 research studies and fellowships in 12 countries.
Financials
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Operations
The people, governance practices, and partners that make the organization tick.
Connect with nonprofit leaders
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Connect with nonprofit leaders
SubscribeBuild relationships with key people who manage and lead nonprofit organizations with GuideStar Pro. Try a low commitment monthly plan today.
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Cystinosis Research Foundation
Board of directorsas of 10/06/2022
Founding Trustee Nancy Stack
Cystinosis Research Foundation
Term: 2003 -
Mr. Geoffrey L. Stack
SARES•REGIS Group
Term: 2003 -
Nancy Stack
Cystinosis Research Foundation
Geoffrey Stack
SARES REGIS Group
Donald Solsby
Compass Direct
Marcu Alexander
Hearts for Hadley
Stephanie Cherqui
University of California, San Diego
Bruce Crair
Boingo Wireless, Inc.
Denice Flerchinger
Tina's Hope For A Cure
Thomas Gendron
Woodward, Inc.
Traci Gendron
Tanner's Time for a Cure
John Hagestad
SARES REGIS Group
Michael Hayde
Western National Group
Stephen Jenkins
Sam's Hope for a Cure
Erin Little
Liv-A-Little Foundation
David Mossman
Donahue Schriber Realty Group
Kevin Partington
Cushman & Wakefield
Teresa Partington
Jenna & Patrick's Foundation of Hope
Brian Sturgis
24 Hours for Hank
Lauren Hartz
Lots of Love for Landon
Natalie Stack
Patient Advocate
Jill Emerson
Hope for Brooke
Board leadership practices
GuideStar worked with BoardSource, the national leader in nonprofit board leadership and governance, to create this section.
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Board orientation and education
Does the board conduct a formal orientation for new board members and require all board members to sign a written agreement regarding their roles, responsibilities, and expectations? No -
CEO oversight
Has the board conducted a formal, written assessment of the chief executive within the past year ? No -
Ethics and transparency
Have the board and senior staff reviewed the conflict-of-interest policy and completed and signed disclosure statements in the past year? Yes -
Board composition
Does the board ensure an inclusive board member recruitment process that results in diversity of thought and leadership? Yes -
Board performance
Has the board conducted a formal, written self-assessment of its performance within the past three years? No
Organizational demographics
Who works and leads organizations that serve our diverse communities? Candid partnered with CHANGE Philanthropy on this demographic section.
Leadership
The organization's leader identifies as:
Race & ethnicity
No data
Gender identity
No data
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Sexual orientation
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Disability
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